13 results about "Prenatal diagnosis" patented technology

The invention provides methods for determining aneuploidy and / or fetal fraction in maternal samples comprising fetal and maternal ctDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The application belongs to the technical field of gene diagnosis, and specifically discloses a PHEX gene mutant and application thereof. The application mainly relates to the PHEX gene mutant and application thereof, and specifically relates to application of a PHEX c.112_113insA mutation in screening of a product of X-linked hypophosphatemic rickets resistant to vitamin D. The disclosure widens the pathogenic gene spectrum of X-linked hypophosphatemic rickets resistant to vitamin D, strengthens the understanding of the disease by clinical doctors, provides experience for screening and diagnosis of the disease in the clinic, and also provides a basis for prenatal diagnosis.

A method for detecting chromosome aneuploidy of a fetus on the basis of synthetic data, and a computer-readable medium for recording a program applied to perform the method are provided. According to exemplary embodiments, non-invasive prenatal diagnosis of chromosome aneuploidy in a fetus can be performed with excellent sensitivity and specificity.

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

The application relates to circular RNA diagnostic markers for placenta implantation lineage diagnosis and application thereof. The circular RNA diagnostic markers comprise one or two of circPHACTR4 and circZMYM4, and the cDNA sequences of the circPHACTR4 and the circZMYM4 are respectively shown as SEQ ID NO: 1 and SEQ ID NO: 2. The two circular RNA diagnostic markers are significantly up-regulated in PAS peripheral blood, and can be used as PAS diagnostic markers alone or in combination to realize high-sensitivity, specificity and objective detection of placenta implantation lineage. The sensitivity of circPHACTR4 alone is 74%, the sensitivity of circZMYM4 alone is 68.4%, the two circRNAs are combined to have a good prediction effect on PAS, and the sensitivity and specificity can reach 82% and 88.9% in combination with the diagnosis results of clinical indexes and B ultrasonic waves, so that the precision of the prenatal diagnosis of PAS is greatly improved.

The invention relates to a method and a kit for generating nucleic acid for target capture. The method involves binding of a circ-olio sequence to at least one target oligonucleotide to generate a single stranded circular DNA. The single stranded circular DNA is bidirectionally amplified with the sense and antisense oligonucleotides, followed by biotinylation to obtain for a double-stranded concatemer of linear sequence. The double-stranded concatemer of linear sequence with the restriction endonucleases produces a target capture nucleic acid. The method offers a scalable targeted capture of pr eselected genomic regions, and is cost effective. The method of generating nucleic acid for target capture has application in the field of oncology hematology, inherited malignancies, germline disorders, microbiology and prenatal diagnosis. The invention generates baits over high GC-rich regions of the genome.

The application belongs to the technical field of gene detection and molecular diagnosis, and particularly relates to a kit for detecting a pathogenic gene of phenylketonuria and application thereof. The kit comprises a primer pair for amplifying specific exons and splicing regions of a phenylalanine hydroxylase gene, and specific probes for detecting hot spot mutations and deletion / repetition variations of the gene. The application can detect genetic variations related to phenylketonuria in one time, quickly and accurately by combining optimized multiplex polymerase chain reaction with high-throughput sequencing or gene chip technology, and covers various known hot spot mutations and copy number variations including c.1222C>T, c.1068-11G>A, c.728G>A and c.1162G>A. The kit has high detection sensitivity and strong specificity, and is suitable for positive recall diagnosis of neonatal phenylketonuria screening, genetic diagnosis of suspected patients, carrier screening and prenatal diagnosis, and provides an efficient tool for precise prevention and control of phenylketonuria.

The invention relates to the field of molecular biology, in particular to Down's syndrome induced pluripotent stem cells as well as a construction method and application thereof. Four transcription factor reprogramming methods of KLF4, OCT4, c-MYC and SOX2 are utilized to construct Down's syndrome induced pluripotent stem cells, an expression profile of non-coding RNA in derived exosomes of the Down's syndrome induced pluripotent stem cells is systematically analyzed, differentially expressed non-coding RNA is screened, an RT-ddPCR technology is further adopted to analyze the expression condition of the differentially expressed non-coding RNA in maternal peripheral blood, and the DDown's syndrome induced pluripotent stem cells are obtained. And new information is provided for screening of novel markers for antenatal diagnosis of Down's syndrome and establishment of a detection method.

The application belongs to the technical field of biology, and specifically discloses a new mutation of ANKRD11 related to KBG syndrome and application thereof. The ANKRD11 gene mutation is any one of the following: a nucleic acid, the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 6281 to No. 6282 are deleted; a polypeptide, compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2, has a p.L2095Gfs*6 mutation. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutation in screening of a KBG syndrome risk population. In the disclosure, the pathogenic gene spectrum of KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The invention discloses an antenatal diagnosis and examination device, and relates to the technical field of antenatal diagnosis. Under the action of the puncture component, the puncture needle is driven to move and puncture into an amniotic cavity of a pregnant woman; through the operation of the driving mechanism, the hemisphere I and the hemisphere II are driven to synchronously and reversely rotate under the action of the two transmission mechanisms; under the action of the switching part, the two transmission mechanisms are driven to move relatively, so that the hemisphere I and the hemisphere II shake continuously; and along with the continuous operation of the switching part, the hemisphere I and the hemisphere II synchronously rotate in the same direction. According to the device, a mechanical puncture mode is achieved, amniotic fluid and non-liquid substances in the amniotic fluid can be collected, the situation that a puncture needle is blocked can be avoided, the purpose of scattering and conveying the non-liquid substances can be achieved through switching and matching of multiple movement modes, and the excellent intelligent effect is achieved.

The application provides a nevus basal cell carcinoma syndrome gene mutation site and application thereof, the gene mutation site is a frame shift mutation c.724_725delCA of a 5th exon of a PTCH1 gene, the mutation causes a subsequent codon reading frame change, and causes a PTCH1 protein frame shift mutation p.Q242Vfs*9.The c.724_725delCA mutation site of the application expands the pathogenic gene spectrum of NBCCS.The PTCH1 gene c.724_725delCA mutation in the application can be applied in NBCCS diagnosis, and a kit containing a mutation detection primer or probe and a genetic counseling and prenatal diagnosis method based on the mutation can be prepared.

The present application relates to the technical fields of prenatal diagnosis, and discloses a prenatal diagnosis examination device for clinical gynaecology and obstetrics, which comprises a puncture needle for puncture and a control handle fixedly connected to the tail end of the puncture needle, a crushing material passing ball is rotatably connected to the inside of the puncture needle, the crushing material passing ball comprises a plurality of first circular rings and second circular rings which are staggered and slidably connected, and cutting edges are fixedly connected to the first circular rings and the second circular rings; when the rotating knob rotates, the winding roller also rotates, so that the first circular rings and the second circular rings rotate synchronously; at this time, the impurities which are blocked in the gap between the crushing material passing ball and the puncture needle are affected by the rotation of the first circular rings and the second circular rings and the insertion of the cutting edges, so that the impurities are driven to rotate to the inside of the puncture needle; in combination with the negative pressure effect of the negative pressure bottle, the impurities are sucked into the inside, the collection of the impurities is completed, and then the impurities are conveniently examined and diagnosed.