Detection method for common gene mutations in 17α-hydroxylase deficiency applicable to the Chinese population

A crowd, cyp17a1-y329fs technology, applied in biochemical equipment and methods, microbial determination/inspection, etc.

Active Publication Date: 2021-03-09
SHANGHAI NINTH PEOPLES HOSPITAL SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The current method used to detect mutations is direct sequencing, and the use of haplotypes to detect this mutation has not been reported so far

Method used

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  • Detection method for common gene mutations in 17α-hydroxylase deficiency applicable to the Chinese population
  • Detection method for common gene mutations in 17α-hydroxylase deficiency applicable to the Chinese population
  • Detection method for common gene mutations in 17α-hydroxylase deficiency applicable to the Chinese population

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Experimental program
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Embodiment

[0023] Concrete implementation method of the present invention comprises the following steps:

[0024] Step (1): Select 16 SNP sites on the CYP17A1 gene (evenly distributed on the CYP17A1 gene). The selected SNP sites are shown in Table 1.

[0025] Table 1. Selected SNP sites

[0026]

[0027] Step (2): Design 6 pairs of specific primers that can amplify all 16 SNPs. The primers are shown in Table 2. Primer 1F / 1R amplifies SNP1, 2, and 3, primer 2F / 2R amplifies SNP4, and primer 3F / 3R amplified SNP5, 6, 7, 8, primer 4F / 4R amplified SNP9, 10, primer 5F / 5R amplified SNP11, 12, 13, primer 6F / 6R amplified SNP14, 15, 16.

[0028] Table 2. PCR amplification fragments and primers

[0029]

[0030]

[0031] Step (3): Perform gene sequencing on the 16 SNP sites in patients and carriers (Y329fs) to determine the genotype of each site.

[0032] Step (4): Haplotype analysis was performed using PHASE 2.1 software.

[0033] Step (5): Obtain the haplotype haplotype 1-5 containi...

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Abstract

The invention relates to a method for detecting common gene mutations of 17α hydroxylase deficiency applicable to the Chinese population, which is characterized in that it comprises the following steps: Step (1): selecting multiple SNPs on the genes to be detected in patients and carriers site; step (2): clarify the genotype of the SNP site; step (3): use software to perform haplotype analysis on multiple SNP sites; step (4): find out the gene mutation The haplotype of the haplotype is obtained to obtain the result of the haplotype analysis; step (5): the result is verified in the normal population. The invention is very suitable for Chinese people, can make up for the deficiencies and deficiencies in this field, and has very practical value.

Description

technical field [0001] The invention relates to a method for detecting common gene mutations of 17α hydroxylase deficiency applicable to Chinese population. Background technique [0002] Chromosomes occur in pairs in human cells, except in germ cells. One of the chromosomes comes from the father and the other from the mother. But chromosomes are not immutable from generation to generation. During the formation of sperm and egg cells, chromosome pairs recombine, in which chromosomes in a pair come together and exchange segments. The resulting heterozygous chromosomes contain segments of both members of the pair and are passed on to the next generation. After many generations, through repeated recombination events, the original arrangement of segments of ancestral chromosomes has been disrupted in nonconsanguineous populations. Certain segments of ancestral chromosomes appear in the DNA sequences of many descendant individuals. Segments not broken by recombination are sep...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 乔洁韩兵薛丽琼范梦夏赵双霞陆颖理宋怀东
Owner SHANGHAI NINTH PEOPLES HOSPITAL SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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