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A method for detecting sexual development related gene variation and a kit therefor

A kit and gene technology, applied in the fields of biochemical equipment and methods, determination/inspection of microorganisms, bioreactor/fermenter combination, etc.

Active Publication Date: 2016-07-06
天津华大基因科技有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Nevertheless, the detection rate of neonatal DSD is still only about 20%, and there are still great challenges

Method used

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  • A method for detecting sexual development related gene variation and a kit therefor
  • A method for detecting sexual development related gene variation and a kit therefor
  • A method for detecting sexual development related gene variation and a kit therefor

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0042] The sample in this example comes from Chongqing Children's Hospital, and it is clinically diagnosed as suspected androgen insensitivity syndrome. Before using the method / device of the present invention for detection, the androgen receptor gene (AR) was detected and analyzed using the traditional Sanger detection method. The result was negative.

[0043] 1. DNA extraction: Use QIAGEN kits to extract DNA from peripheral blood samples, and conduct NanoDrop8000 detection and agarose gel electrophoresis detection for quality control.

[0044] 2. Sample fragmentation: Use the Covaris fragmentation method to fragment the sample DNA into fragments in the range of 100-700bp.

[0045] 3. Library preparation

[0046] 3.1 End Repair

[0047] End repair reaction system:

[0048] Number of responses

1 reaction (μL)

10x Polynucleotide Kinase Buffer(B904)

10μL

dNTP Solution Set

4μL

T4 DNA Polymerase

5μL

Klenow Fragment

1μL

...

Embodiment 2

[0089] The samples were from Southwest Hospital, and genetic testing was performed on a 46,XXDSD child with hypospadias and hypospadias.

[0090] Parts 1-5 are the same as in Embodiment 1.

[0091] 6. Result Analysis

[0092] The test results showed that the average sequencing depth of the target region of the sample was 419X, and the coverage of the target region was >98%.

[0093] 46XX, SRY gene positive information analysis results are as follows: image 3 shown. It can be seen from the figure that the sequencing depth of the SRY gene of this sample is >150X; the coverage of the whole gene is 100%, indicating that the 46,XX subject has a complete SRY gene, that is, SRY positive. The SRY gene is a sex-determining gene for males, resulting in a masculine appearance in this subject. In order to verify the authenticity and reliability of the detection method of the present invention, the SRY gene PCR method was further used to verify the sample, and the result was consisten...

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PUM

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Abstract

The invention discloses a kit. The kit comprises a probe. The probe is fixed to a solid substrate or is free in a liquid phase. The probe can specifically recognize exon regions of specific 29 genes of an X chromosome and at least another region of the X chromosome. A distance, on the X chromosome, of any two adjacent regions in the regions specifically recognized through the probe of the X chromosome is not more than 10 M. The probe can specifically recognize an exon region of an SRY gene of a Y chromosome and at least another region of the Y chromosome. A distance, on the Y chromosome, of any two adjacent regions in the regions specifically recognized through the probe of the Y chromosome is not more than 10 M. In addition, the invention also discloses uses of the kit in detection of sexual development related genes, a method of detecting SRY gene variation, a device for detecting the SRY gene variation and a method of detecting sexual development related gene variation.

Description

technical field [0001] The present invention relates to the field of biomedicine. Specifically, the present invention relates to a method and a kit for detecting mutations in genes related to sexual development. More specifically, the present invention relates to a kit, the use of the kit in detecting genes related to sexual development, and a kit. A method for detecting SRY gene variation, a device for detecting SRY gene variation and a method for detecting sexual development-related gene variation. Background technique [0002] Disorders of sex development (DSD) are a group of heterogeneous genetic diseases with abnormal sex determination and differentiation, and are changes in the genetic and endocrine pathways of sexual development caused by chromosomal aberrations or single gene mutations [MacLaughlin, D.T. and P.K. Donahoe, Sex determination and differentiation. NEnglJMed, 2004. 350(4): p.367-78.]. The incidence of sexual developmental diseases is about 1-3‰, of which...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12M1/34
Inventor 易玉婷曹飞周丽颖易鑫
Owner 天津华大基因科技有限公司
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