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Mutated genes associated with rare genetic diseases and their applications

A technology for mutated genes and genetic diseases, applied in mutated genes and their application fields, to achieve the effect of reducing the birth of children

Active Publication Date: 2022-07-12
百世诺(北京)医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] At present, a large number of NR3C2 gene mutation sites have been found, such as c.2581C>T, 2578T>G, c.2471G>A, etc., but there are still unknown NR3C2 gene mutation sites, and further discovery of new NR3C2 gene mutation sites is important for Studying the pathogenesis of pseudoaldosteronism is of great significance for the early diagnosis of pseudoaldosteronism or assisting clinical judgment

Method used

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  • Mutated genes associated with rare genetic diseases and their applications
  • Mutated genes associated with rare genetic diseases and their applications
  • Mutated genes associated with rare genetic diseases and their applications

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Example 1 - Mutated genes associated with rare genetic diseases

[0018] Mutated genes related to rare genetic diseases, specific mutations are shown in Table 1 below:

[0019] Table 1 Specific detection results of mutated genes related to rare genetic diseases

[0020] Gene genomic location Transcript number base change amino acid change reference genome version exon number NR3C2 chr4:149357409 NM_000901 c.604T>C p.Ser202Pro GRCh37 / hg19 Exon2

[0021] (1) At the genomic position chr4:149357363-chr2:149357412, the sequence of the wild-type NR3C2 gene is:

[0022] is the base of the wild-type NR3C2 gene at genome chr4:149357409.

[0023] The sequence of the mutated gene associated with the rare genetic disease at the corresponding position in the genome is:

[0024] is the base of the mutant gene NR3C2 at genome chr4:149357409.

[0025] (2) When the transcript number is NM_000901, the reference sequence of the wild-t...

Embodiment 2

[0037] Example 2 - Detection kit for mutated genes related to rare genetic diseases

[0038] Detection kits for mutated genes associated with rare genetic diseases, including Taq DNA polymerase, PCR buffers and primers, etc. The specific primers are as follows:

[0039] Upstream primer (NR3C2-E2-PART-F1, SEQ ID NO: 1): 5'TAAAACTGAGCTGGAATCTAAGGA 3';

[0040] Downstream primer (NR3C2-E2-PART-R1, SEQ ID NO: 2): 5'TTAATATTTGCAGGGCTAGACACA 3';

[0041] Length: 648bp.

[0042] The specific steps of using this kit to screen the mutated pathogenic gene NR3C2 are: extracting the DNA of the test subject, and then using the designed primer combination (SEQ ID NO: 1 and SEQ ID NO: 2) to amplify the NR3C2 gene to obtain PCR products were detected by 1.5% agarose gel electrophoresis, and 1000bp Marker was selected as a reference to detect and verify that the amplified products were of the expected size, and finally the PCR products were sequenced. The reference sequence obtained from t...

Embodiment 3

[0043] Example 3-Family Verification Experiment

[0044] In this example, the pedigree linkage analysis method was used to verify the pathogenicity of mutated genes related to rare genetic diseases.

[0045] Specifically, three generations of members of a familial pseudohypoaldosteronism family were selected, and the proband (female, 21 years old) in this family was clinically diagnosed with pseudohypoaldosteronism.

[0046] On the premise that the proband and his family members voluntarily sign the informed consent, 5-10mL whole blood samples will be sent, and a medical record database will be established to record the proband's condition, family situation and other information in detail. This study has been approved by the ethics committee of our institution.

[0047] Description of the clinical profile of the proband:

[0048] Table 2 Clinical profile of probands

[0049]

[0050]

[0051] The NR3C2 gene of the proband and his family members were genetically detect...

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Abstract

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.

Description

technical field [0001] The present invention relates to the field of human genetics and internal medicine cardiovascular technology, in particular to mutated genes related to rare genetic diseases and applications thereof. Background technique [0002] Pseudohypoaldosteronism (PHA) is a rare hereditary disease characterized by mineralocorticoid resistance, also known as Cheek-Perry syndrome, first reported by Cheek and Perry in 1958. Colon, sweat glands, salivary glands and other multi-organ salt-loss syndrome. Most of the onset in the neonatal period, symptoms can appear several hours after birth, repeated vomiting, diarrhea, decreased or disappeared thirst, delayed growth and development (even idiots) as the main symptoms, other manifestations are renal aldosterone resistance, metabolic acidosis, Dehydration, hyponatremia, hyperkalemia, elevated serum aldosterone, and increased plasma renin activity; some cases only developed symptoms after salt restriction or aldosterone...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156Y02A50/30
Inventor 刘哲梁庆渊赵娜娜赖开生刘昕超高璇李方玉侯青惠汝太
Owner 百世诺(北京)医学检验实验室有限公司
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