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Detection method of 17[alpha] hydroxylase deficiency common gene mutation applicable to Chinese population

A detection method, hydroxylase technology, applied in biochemical equipment and methods, microbial determination/inspection, etc.

Active Publication Date: 2017-06-23
SHANGHAI NINTH PEOPLES HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Abstract
  • Description
  • Claims
  • Application Information

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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 of 17[alpha] hydroxylase deficiency common gene mutation applicable to Chinese population
  • Detection method of 17[alpha] hydroxylase deficiency common gene mutation applicable to Chinese population
  • Detection method of 17[alpha] hydroxylase deficiency common gene mutation applicable to Chinese population

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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 detection method of of 17[alpha] hydroxylase deficiency common gene mutation applicable to Chinese population. The detection method is characterized by comprising the following steps: (1) selecting a plurality of SNP sites from to-be-detected genes of a patient and a carrier; (2) determining genotype of the SNP sites; (3) conducting haplotype analysis on the plurality of SNP sites by virtue of software; (4) finding out haplotype of gene mutation, so as to obtain a haplotype analysis result; and (5) verifying the result in a normal population. The detection method provided by the invention is quite applicable to Chinese population and is capable of overcoming shortcomings and deficiencies in the field; therefore, the detection method has a high 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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IPC IPC(8): C12Q1/68
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 AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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