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43 results about "Postnatal Care" patented technology

The care provided to women and their NEWBORNS for the first few months following CHILDBIRTH.

Kit for detecting disease-causing genic mutation of neural tube defect of neonatus and application thereof

The invention discloses a kit for detecting whether mutation occurs at a relevant single nucleotide polymorphism (SNP) locus on a disease-causing gene of a neural tube defect of a neonatus. The kit mainly comprises a specific primer pair and a specific fluorescent probe pair which are used for detecting a No.rs1801133 SNP locus polymorphism genotype and a No.rs1801131 SNP locus polymorphism genotype on a methylenetetrahydrofolate reductase (MTHFR) gene and a No.rs1801394 SNP locus polymorphism genotype on a methionine synthase reductase (MTRR) gene, and the conventional fluorescent quantitative PCR reaction reagent. The kit is used for detecting a mutant of the disease-causing gene of the neural tube defect of the neonatus, can be used for quickly and conveniently searching a carrier with the disease-causing gene, can be applied to antenatal diagnosis and timely treatment, and reduces the morbidity of the neutral tube defect of the neonatus so as to fulfill the aims of promoting good prenatal and postnatal care.
Owner:XINBAXIANG SHANGHAI MOLECULAR MEDICAL TECH SHANGHAI

Chemical luminescence immune analysis diagnosis reagent kit detecting Toxoplasma Gondi IgG antibody and preparation method thereof

The invention discloses a diagnostic kit for testing toxoplasma IgG antibody chemiluminescence immunoassay. The diagnostic kit comprises a negative reference substance, a positive reference substance, a solid phase carrier, a toxoplasma antigen marker, an enzyme combination, a chemiluminescence substrate solution A, a chemiluminescence substrate solution B and a concentrated washing solution. Moreover, the invention further discloses a preparation method for the diagnostic kit for testing toxoplasma IgG antibody chemiluminescence immunoassay. The kit has the characteristics of simple and convenient operation, high sensitivity, good specificity and extremely high conformity to etiological test result, etc. The invention can be taken as one of the important indexes for pregestational test, and is significant for improving the health of newborns and promoting good prenatal and postnatal care.
Owner:CHEMCLIN DIAGNOSTICS CO LTD

Micro-ecological beef cattle breeding technology and mode thereof

The invention discloses a micro-ecological beef cattle breeding technology and a mode thereof, and belongs to the technical field of beef cattle industry. The micro-ecological beef cattle breeding technology and the mode thereof provided by the invention adopt the traditional ecological breeding as the basis, are fused with a microbial full intervention method, a TMR feeding way, early weaning, cow body condition regulation and a postnatal care technology, adopt links of microbial treatment of feed nutrition, feeding environment, fecal treatment, disease prevention and control and the like, almost needs no stable flushing, and produces little sewage, so as to solve a problem of ammonia odor in a cattle breeding environment and realize clean breeding. According to the invention, non-nutritional additives (including antibiotics) for animal health are abandoned; the animal health dominated by microbial fermented traditional Chinese herbal medicines is innovated; the fermented traditional Chinese herbal medicines are mixed with feed for secondary fermentation; domestic vaccines and antibiotic-free Chinese patent medicines can be used safely, thereby both improving the quality of beef and solving the problem of epidemic diseases. The micro-ecological beef cattle breeding technology and the mode thereof provided by the invention improve the growth and reproduction performance of the beef cattle and improve the potential productivity of the beef cattle through combination driving of integrated technologies, so as to achieve a high-input, high-quality and high-yield benign production situation of beef cattle production.
Owner:来宾市畜牧站

HRM method and kit for clinically detecting deafness-related gene mutation

The invention discloses an HRM method and kit for clinically detecting deafness-related gene mutation. The HRM method comprises the steps that PCR amplification and HRM scan analysis are conducted by extracting DNA of a sample to be detected and applying primers shown in SEQ ID NO.1-30; the deafness-related gene mutation type is judged according to a scan analysis result, a sample free of mutation peaks in HRM scan typing is negative, and a sample with the mutation peaks in HRM scan typing is positive. The kit comprises the primers, quality control products, a PCR reagent, fluorescent dyes and the like; the kit has the advantages that all the primers in the kit can conduct a PCR reaction at the same temperature, the detection sensitivity and the specificity are high, a small reaction system is achieved, the detection sample source is rich, reacting is easy, convenient and rapid, the reagent cost is low, and high throughput is achieved. The HRM method and kit are suitable for clinical neonatal hereditary deafness gene screening and pre-pregnancy deafness gene screening for good prenatal and postnatal care and beneficial for guiding good prenatal and postnatal care and clinical personalized medication.
Owner:WUHAN UNIV

Lactation food, and preparation method and orally taking method thereof

The invention relates to the field of foods and particularly relates to a lactation food, and a preparation method and an orally taking method thereof. The lactation food is prepared from the following materials in parts by weight: 5-15 parts of rice, 3-10 parts of peanut, 1-6 parts of semen juglandis, 1-6 parts of red dates, 1-6 parts of pawpaw, 0.1-3 parts of donkey-hide gelatin or donkey head bone powder, and 0.1-3 parts of white sugar. The lactation food provided by the invention has the functions of balancing maternal nutrition, helping postpartum recovery, producing more milk in a lactation period, and increasing the yield of breast milk, has significant effects of promoting lactation, smoothening breast and increasing milk for a lying-in woman, has the functions of cultivating vital energy, enriching the blood, increasing appetite, relaxing tendons and activating collaterals, and has the effects of adjusting postpartum recovery, promoting milk secretion, improving the milk quality, and promoting healthy growth of babies, so as to play the prenatal and postnatal care roles. The preparation method of the lactation food is simple and feasible; and the lactation food is convenient to eat.
Owner:王正光

Brain-tonifying and intelligence-raising compound walnut soymilk preparation for dietotherapy

The invention provides a composite walnut soya milk preparation beneficial for intellectual power, comprising walnut, soya, kudzu root, astragalus root, yam, haw, malt, serissa serissoides, calamus, glycyrrhiza uralensis or the other medical material and food stuff. The raw material is rich and easily grinded, decocted, boiled into soya milk preparation and the die therapy administration is convenient and the target force is strong and the guidance force is strong and the therapy effect is good without side effect. The total effective rate of clinical curative effects such as children intelligent development, prenatal and postnatal care and adult brain health-care is 100%. The composite walnut soya milk preparation as student nutrient breakfast milk is capable of starting, hoisting and reinforcing child brain cell activity and helping growth, treating child brain type infantile malnutrition, and as an oral nutrient breakfast milk for adult capable of benefiting brain, increasing intelligence quotient, caring brain and preventing and treating elderly early-stage cretinism.
Owner:李红芳 +1

Polymerase chain reaction (PCR) method for identifying four pathogens in prenatal and postnatal care examination through single tube and kit thereof

The invention discloses a real-time fluorescent polymerase chain reaction (PCR) method for simultaneously detecting four targeting nucleic acids in a single PCR reaction tube. The method is used for detecting toxoplasma gondii, rubella virus, cytomegalovirus and herpes simplex virus in samples. The method is fast in operation, is finished through one step and is high in accuracy and sensitivity, and false positive and false negative results are not discovered in practice detection. In addition, the invention also relates to a reagent involved in the PCR method, as well as a detection kit for the method and preparation and application of the detection kit.
Owner:苏州华益美生物科技有限公司

FOXP3 mutator gene of IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) syndrome major gene, detection method and kit thereof

The invention discloses an FOXP3 mutator gene of an IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) syndrome major gene. The 68869th-68872th base AAT and the 70207th base T of the internal subregion of the first segment of the mutator gene is in deletion. The mutator gene provides a new theory basis for the pathogenesis of about 30 percent of clinical IPEX syndrome patients and is helpful for clinically developing a screening work of suspected IPEX syndrome patients and the screening work of parents carrying the mutator gene and convenient for fertility guidance and good prenatal and postnatal care. Meanwhile, the mutator gene provides a new target spot for the pharmacotherapy of the IPEX syndrome and a theory basis for the research and development of new medicine of the IPEX syndrome. The invention also provides a detection method and a detection kit of the FOXP3 mutator gene, which have simple, convenient and quick operation and low cost.
Owner:ARMY MEDICAL UNIV

Oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis

The invention discloses an oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis. By collection of a 4-generation oculocutaneous albinism type 1 family, a transmission manner of 4-generation oculocutaneous albinism type 1 in the family is an autosomal recessive inheritance manner according to judgment; by reading of documents and online databases, possible pathogenic candidate genes are selected, then a propositus and other members in the family are subjected to PCR (polymerase chain reaction) amplification and Sanger sequencing to determine mutant gene loci, and consequently a TYR pathogenic gene (mutant c.107G) which is a novel pathogenic mutation is discovered. Discovery of the novel TYR pathogenic gene mutation locus enriches a pathogenic gene mutation spectrum, and the novel TYR pathogenic gene mutation locus can be used as a prenatal diagnosis screening locus for oculocutaneous albinism type 1 which is a serious recessive hereditary disease to guide prenatal and postnatal care. By providing of the oculocutaneous albinism type 1 related mutated TYR gene, data support is provided for design of prenatal diagnosis chips, and especially,important significance to prenatal gene diagnosis screening of seriously-harmful rare genetic diseases is achieved.
Owner:HARBIN MEDICAL UNIVERSITY

Formula powder suitable for females at pregnancy period and preparation method of formula powder

The invention discloses formula powder suitable for females at the pregnancy period and a preparation method of the formula powder, and belongs to the technical field of concoction milk powder and a nutrient food. The formula powder consists of lactoferrin, casein peptide phosphate, folic acid, ferrous gluconate, whey protein powder, galactooligosaccharide, fructo-oligosaccharide, docosahexaenoicacid, choline, taurine, vitamin A, vitamin D, vitamin C, vitamin E, vitamin K, vitamin B1, vitamin B2, vitamin B6, vitamin B12, niacin, biotin, calcium, magnesium, phosphorus, sodium, potassium, zinc,selenium and fresh milk spray-dried powder. The formula powder is suitable for females at the pregnancy period, various nutrient substances can well promote absorption with each other and provide nutrients necessary for females at the pregnancy period without additional nutrient enrichment, and the formula powder can enrich the calcium, can resist anemia, can improve the immune function and disease resistance of the females at the pregnancy period, can make early-stage preparation for the females at the pregnancy period, and finally, can realize the purpose of prenatal and postnatal care.
Owner:NORTHEAST AGRICULTURAL UNIVERSITY

Pregnancy full-nutrition eugenics paste

The invention relates to a health-care food, and in particular discloses pregnancy full-nutrition eugenics paste. The pregnancy full-nutrition eugenics paste is prepared from the following raw materials in certain parts by weight: gorgon euryale seed, red peanut, soybean, red kidney bean, chickpea, Chinese chestnut, lotus seed, longan pulp, black sesame, date, walnut kernel, yellow rice, red rice, millet, sorghum rice, selenium-rich rice, and black glutinous rice. The pregnancy full-nutrition eugenics paste has the advantages that after eating for a long time, the nutrition level of a pregnant woman is favorably improved, the normal development of a fetus is guaranteed, the complication of the pregnant woman is reduced, the condition of low-weight children and the birth rate of deformed children are decreased, and the quality of population is favorably improved; the preparation is simple and convenient, the mouth feel is fragrant and sweet, the digestion and absorption are easy, and the pregnancy full-nutrition eugenics paste is suitable for the growth and development of pregnancy fetuses; after the pregnant woman eats the pregnancy full-nutrition eugenics paste, the body immunity is improved, the sleeping quality is improved, the appetite is increased, and a foundation is laid for the prenatal and postnatal care.
Owner:SHANDONG DAOZHIZIRAN HEALTH IND CO LTD

Application of Isl1 gene or protein in sinoatrial node abnormality related diseases

The invention provides an application of Isl1 gene or protein in sinoatrial node abnormality related diseases, concretely provides a use of an LIM homodomain transcription factor (Isl1) gene or its protein in the preparation of a reagent or kit for detecting or predicting the sinoatrial node (SAN) abnormality related diseases, and also provides a method for detecting or predicting the sinoatrial node abnormality related diseases. The Isl1 gene or protein can be used in prenatal screening and diagnosis of various kinds of congenital heart diseases with arrhythmia as the main symptoms, so it is in favor of realizing prenatal and postnatal care.
Owner:SHANGHAI EAST HOSPITAL EAST HOSPITAL TONGJI UNIV SCHOOL OF MEDICINE

POAG gene detection kit suitable for prenatal noninvasive diagnosis and detection method thereof

The invention discloses a POAG gene detection kit suitable for prenatal noninvasive diagnosis and a detection method thereof. The kit comprises a specific primer group and a specific fluorescent probe group which are designed for the following 11 SNP sites: rs290487, rs10830963, rs17802111, rs7420812, rs3754648, rs10904012, rs12635144, rs2964283, rs3747926, rs59306779 and rs6135530. The POAG gene detection kit has the characteristics of simple operation, low cost, good specificity, high sensitivity and the like, and can simultaneously detect and determine various types of mutations of a plurality of pathogenic / susceptible genes at most, so that the probe groups and the kit can be applied to molecular genetic diagnosis of sick individuals, and can also be used for screening high-risk groups in family members of POAG patients and providing reference for corresponding genetic counseling or prenatal intervention. The POAG gene detection kit is helpful for early treatment or intervention, has extremely important value for prenatal and postnatal care, and conforms to the development trend of precision medical treatment.
Owner:中国人民解放军陆军特色医学中心

One group of primers for detecting FVIII/FIX gene mutations of patient with hemophilia and application of one group of primers

ActiveCN108315406AExact classificationThe classification method is reliableMicrobiological testing/measurementDNA/RNA fragmentationClassification methodsHemophilia patient
The invention discloses one group of primers for detecting FVIII / FIX gene mutations of a patient with hemophilia and application of one group of primers. The primers are 8 pairs of F9 primers, 39 pairs of 22 inversion 3 F8 primers and 1 inversion 4 F8 primers, can be used for etiological classification of hemophilia, can be applied to treatment of a non-factor drug to the hemophilia according to etiological classification of the hemophilia and can enable the patient with the hemophilia to change from severe type to a moderate type and a mild type. By adopting the primers, an acquired getter FVIII / FIX:C can be returned mormality; and further verified that the hemophilia etiological classification method provided by the invention is definite and reliable, opens up a new thought and a new wayof preventing hemophilia bleeding and avoiding disability and has an important significance of guiding prenatal and postnatal care and blocking inheritance.
Owner:陕西医大血友病研究院

Pathogenic gene mutation of hypothyroidism and diagnostic reagent based on same

The invention discloses pathogenic gene mutation of hypothyroidism. According to the invention, exome sequencing technology firstly reveals that mutation at the site CHRNA1: NM_000079: exon 6: c. G605A: p. R202Q and site TRPM8: NM_024080: exon 12: c. G1442C: p. G481A may lead to hypothyroidism. Research results of the invention can be used for early screening of carriers of the pathogenic gene mutation of hypothyroidism, providing guidance for prenatal and postnatal care, and providing molecular diagnosis bases for patients with hypothyroidism.
Owner:JINAN CENTER HOSPITAL

Pregnancy early and middle nourishing the fetus compound Chinese medicine pill and method of preparing the same

The invention relates to a compound Chinese drug pill for nourishing and strengthening the gestation early-middle fetus and a preparation method thereof, which belongs to the Chinese patent medicines technology field. The pill is composed of the active principles of raw milkvetch root, fox glove, red ginseng, wine fired dodder, wine fired malaytea scurfpea fruit, Chinese teasel root, glossy privet fruit, Gansu boxthorn and fired aconite, and the active principles of one or more of subsidiary drugs of Korean raspberry, bitter cardamon, soil atractylodes macrocephala, and the mixture is dried, ground and sifted. The weights of the components are as follows: raw milkvetch root 30 to 40 g, fox glove 20 to 30 g, red ginseng 15 to 30 g, wine fired dodder 20 to 40 g, wine fired malaytea scurfpeafruit 15 to 30 g, Chinese teasel root 20 to 30 g, glossy privet fruit 15 to 30 g, Gansu boxthorn 15 to 30 g, fired aconite 15 to 30 g, Korean raspberry 15 to 30 g, bitter cardamon 15 to 30 g and soilatractylodes macrocephala 20 to 30 g. The pill also comprises honey and edible vegetable oil which are boiled by mixing water, and the honey and the edible vegetable oil are matched with medicinal powder to prepare the pill. The pill can adjust and replenish the five-organ function, improve immunologic function of a pregnant woman, ensure the endocrine function to be more vigorous and the stheniaof fetus qi of the pregnant woman, promote the development of the cells and the kidney of the fetus, and therefore the prenatal and postnatal care is achieved. The pill is used for early-middle pregnant women and infertility patients.
Owner:赵严锁

Feeding process of high-yield Huanghuai ewes

The invention discloses a feeding process of high-yield Huanghuai ewes. The feeding process comprises the following steps: S1: selecting objects: selecting the Huanghuai ewes with good healthy conditions; S2: feeding and managing before mating and fertilizing: establishing an ewe feeding farm and grazing for 4h-8h every day in spring with abundant green grass and abundant feed; supplementing air-dried feed every day, wherein the air-dried feed is 0.2%-1% of the weight of each Huanghuai ewe body; grazing for 2h-5h every day in other seasons and supplementing the air-dried feed every day, wherein the air-dried feed is 0.5%-1.5% of the weight of each Huanghuai ewe body; fattening after mating for 1-2 months according to body conditions of the Huanghuai ewe bodies and carrying out short-period dominant feeding to enable estrus time of the ewes to be relatively uniform; and intensively bearing lambs; S3: feeding and managing at a gestation period; and S4: carrying out postnatal care. The feeding process disclosed by the invention is reasonable in design, and grazing and feed supplementation are combined; mating management is convenient to carry out and the feeding cost is reduced; and the lambing percentage is high and the economic benefits of farmers are effectively improved.
Owner:毕化征

Stably fixed obstetric care bed for hospitals and stably fixing method

The invention discloses a stably fixed obstetric care bed for hospitals and a stably fixing method. The obstetric care bed comprises a fixed base; the top of the fixed base is fixedly connected with abed frame; an inner cavity of the bed frame is fixedly connected with a nursing mattress; and an inner cavity of the nursing mattress is movably connected with a movable mattress. The present invention relates to the technical field of obstetric care. According to the stably fixed obstetric care bed for the hospitals and the stably fixing method, when a pregnant woman needs to be subjected to postpartum care, a bed curtain is pulled, the movable mattress in the nursing mattress is pulled out, a flushing pipeline is taken down from a spray head fixing frame, the private part of the pregnant women is cleaned by the flushing pipeline, after cleaning, a micro-fan blows out heated hot air in a heating cavity along a ventilation hoe through an air outlet pipeline to perform ventilation and drying treatment, and after ventilation and drying, the movable mattress is mounted to finish nursing; the air can be subjected to dust removal, heating and sterilization treatment; the body surface of the pregnant women and a quilt are subjected to ventilation and drying for removing a pathogenic bacteria breeding environment; and the use is very convenient.
Owner:宿爱蓉

A detection kit for kcnh2 mutation gene and long qt syndrome

The present invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, and specifically relates to a KCNH2 mutant gene, at the genome position chr7: 150654492, base A is mutated into base T; the reference genome version is GRCh37. The present invention also relates to a long QT syndrome detection kit, comprising a forward primer and a reverse primer designed according to the KCNH2 mutant gene, the sequence of the forward primer is SEQ ID NO: 5, and the sequence of the reverse primer is SEQ ID NO :6. The human KCNH2 mutant gene provided by the present invention can distinguish long QT syndrome patients from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of long QT syndrome; detection of carriers of the mutation can provide eugenic guidance for subjects and genetic counseling to reduce the number of births; provide possible drug targets for humans to overcome long QT syndrome, and promote the development of innovative drugs.
Owner:百世诺(北京)医疗科技有限公司

Mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof

PendingCN112458104AHydrolasesMicrobiological testing/measurementIncomplete bilateral cleft lipPrenatal diagnosis
The invention discloses a mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof. Compared with an un-mutant N4BP2 Gene with the gene bank accession number of NM_018177.6, the mutant N4BP2 contains respectively contains a non-frameshift deletion mutation site 4: 40133481-40133489delAAGATATTT at a 13 exon, and a missense mutation site 4: 40123905T which is greater than G and a missense mutation site 4: 40122958C which is greater than T at a 9 exon,. The mutant N4BP2 gene can be used for preparing a diagnostic kit for detecting non-syndromic cleft lip andpalate diseases. The discovery of the mutation sites can be used for performing prenatal and postnatal care guidance on family offspring, and can be used as a screening site for carrier screening andprenatal diagnosis screening of the non-syndromic cleft lip and palate diseases for the prenatal and postnatal care guidance of groups.
Owner:HARBIN MEDICAL UNIVERSITY

Premature coronary heart disease-related genes and their detection reagents and applications

The invention discloses a premature coronary heart disease-related gene and its detection reagent and application, a method for in vitro detecting whether there is a coronary heart disease-related gene in a sample to be tested, 1) extracting the DNA of the sample to be tested, targeting the c of the LDLR gene .834delG site for PCR amplification; 2) analyzing the PCR amplification product; 3) identifying whether the c.834delG site of the LDLR gene is missing. According to the present invention, by detecting whether the LDLR gene c.834delG is a heterozygous deletion mutation, patients with premature coronary heart disease can be distinguished from normal people. Therefore, this variation can be used as a biomarker for clinical auxiliary diagnosis of premature coronary heart disease; Whether the subject carries the above-mentioned mutation can detect the carrier of the mutation, provide eugenic guidance and genetic counseling for the subject, and reduce the birth of children; provide possible drug treatment targets for humans to overcome premature coronary heart disease, and promote innovation Drug Discovery.
Owner:百世诺(北京)医疗科技有限公司

A kind of health porridge suitable for postpartum type Ⅱ diabetes patients and its preparation method

The invention discloses healthcare porridge applicable to postpartum type-II diabetics and a preparation method of healthcare porridge. The healthcare porridge is prepared from the following raw materials: medlar, balsam pear, tartary buckwheat, huidouba, ramulus euonymi, manis pentadactyla, towel gourd, siberian nitraria fruit, radix clematidis, akebiaquinata, small sea clam, unprepared Chinese yam, radix pseudostellariae, lily, fresh reed rhizome, coix seed, polished round-grained rice and hyacinth bean. The healthcare porridge disclosed by the invention is developed aiming at the physiological and internal secretion characteristics of type-II diabetic puerperae, can nourish the blood, promote lactescence and ensure the milk quality, can also effectively control blood glucose and prevent chronic complication of diabetes, and can further treat postpartum body ache and astriction.
Owner:北京圣手苗医堂企业管理有限公司

Mutated genes associated with hereditary glomerular diseases and their applications

The invention relates to the fields of human genetics and medical cardiovascular technology, in particular to a mutant gene related to hereditary glomerular diseases. Compared with the reference sequence of the wild-type FN1 gene encoding DNA, the nucleotide sequence of the mutant gene is SEQ ID NO: 3; base A is mutated to base G at genomic position chr2:216273077; reference genome version is GRCh37. The present invention also relates to the application of the above-mentioned mutant gene related to hereditary glomerular disease in the preparation of a detection kit. The mutated gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the carrier of the mutation is detected, the subject is provided with prenatal and postnatal care guidance and genetic counseling, the number of children born is reduced, and the early stage of fibronectin glomerulopathy is affected. Diagnosis, or auxiliary clinical judgment is of great significance.
Owner:百世诺(北京)医学检验实验室有限公司

A group of primers for detecting fⅷ/fⅸ gene mutation in hemophilia patients and its application

ActiveCN108315406BExact classificationThe classification method is reliableMicrobiological testing/measurementDNA/RNA fragmentationEtiologyPhysiology
The invention discloses a set of primers and applications for detecting FVIII / FIX gene mutations in hemophilia patients. The primers are 8 pairs of F9 primers, 39 pairs, 3 22 inversions, and 1 inversion 4 F8 primers , can be used in the etiological classification of hemophilia, according to the etiological classification of hemophilia, non-factor drugs can be used to treat hemophilia, and can make hemophilia patients change from severe to medium, light, acquired FⅧ / FIX : C can return to normal, and further verify that the hemophilia etiology classification method of the present invention is exact and reliable, and for preventing hemophilia hemorrhage and avoiding disability, a new train of thought, new approach have been opened up, and it is helpful for guiding prenatal and postnatal care and blocking inheritance. greater significance.
Owner:陕西医大血友病研究院

Mutated genes associated with rare genetic diseases and their applications

The present invention relates to the field of human genetics and internal medicine cardiovascular technology, in particular to a mutant gene related to rare genetic diseases. Compared with the reference sequence of the wild-type NR3C2 gene encoding DNA, the nucleotide sequence of the mutant gene is SEQ ID NO: 3; Base T is mutated to base C at genomic position chr4:149357409; the reference genome version is GRCh37. The present invention also relates to the application of the above mutant gene in the preparation of a detection kit. The mutated gene provided by the present invention can be used as a biomarker for clinical auxiliary diagnosis; the carrier of the mutation is detected, the subject is provided with prenatal and postnatal care guidance and genetic counseling, the birth of children is reduced, and the early diagnosis of pseudohypoaldosteronism is performed. Or it is of great significance to assist clinical judgment.
Owner:百世诺(北京)医学检验实验室有限公司

Familial hypercholesterolemia related gene and its detection kit and application

ActiveCN113667665BRich targetImprove accuracyMicrobiological testing/measurementDNA/RNA fragmentationFamilial hypercholesteremiaCholesterol
The invention discloses "a gene related to familial hypercholesterolemia and a detection kit and application thereof", which belongs to the development technology of diagnostic reagents. The c.817+1G>C heterozygous mutation is located at the 16th base position of the nucleotide sequence shown in SEQ ID NO: 1; this site can be used as a biomarker for clinical auxiliary diagnosis of familial hypercholesterolemia ; By detecting whether the subject carries the above-mentioned mutation, the carrier of the mutation can be detected, and the subject can be provided with prenatal and postnatal care guidance and genetic counseling to reduce the number of births of children; it can provide possible drug treatment for human beings to overcome familial hypercholesterolemia target, and promote the development of innovative drugs.
Owner:BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV +1

Pharmaceutical combination of prepotency for preventing birth-defect and improving memory

The invention relates to a medical composite for promoting good prenatal and postnatal care, preventing birth defect, and improving memory. The composite comprises rhizome of largehead atractylodes, vitamin B complex, and vitamin D, macroelements of Ca and Mg, and microelements of Zn, Se and Fe. The medical composite is mainly suitable to pregestational women, pregnant women and women in nannie period. The medical composite has good effect in promoting good prenatal and postnatal care, preventing birth defect, and improving memory, and also has function of health care and benefit, and has no side effect even being taken for a long time.
Owner:BEIJING GUANWUZHOU BIOSCIENCE INSTITUTION (CN)

A kind of hypothyroidism pathogenic gene mutation and diagnostic reagent based on the gene mutation

The invention discloses pathogenic gene mutation of hypothyroidism. According to the invention, exome sequencing technology firstly reveals that mutation at the site CHRNA1: NM_000079: exon 6: c. G605A: p. R202Q and site TRPM8: NM_024080: exon 12: c. G1442C: p. G481A may lead to hypothyroidism. Research results of the invention can be used for early screening of carriers of the pathogenic gene mutation of hypothyroidism, providing guidance for prenatal and postnatal care, and providing molecular diagnosis bases for patients with hypothyroidism.
Owner:JINAN CENTER HOSPITAL
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