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Single-nucleotide polymorphism marker relevant to occurrence of congenital megacolon of Chinese population and application of single-nucleotide polymorphism marker

A technology for single nucleotide polymorphism and Hirschsprung's disease, which is applied in the fields of genetic engineering and molecular genetics, can solve problems such as undiscovered SNP markers, avoid invasive auxiliary examination, high repeatability, and simple detection method Effect

Inactive Publication Date: 2015-07-22
首都儿科研究所
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the relatively large ethnic differences of SNPs, so far, there have been no clear reports of SNPs or SNP combinations specifically for the early diagnosis and screening of HSCR diseases in the Chinese population, especially no stable, specific, Sensitive SNP markers associated with HSCR pathogenesis in Chinese population

Method used

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  • Single-nucleotide polymorphism marker relevant to occurrence of congenital megacolon of Chinese population and application of single-nucleotide polymorphism marker
  • Single-nucleotide polymorphism marker relevant to occurrence of congenital megacolon of Chinese population and application of single-nucleotide polymorphism marker
  • Single-nucleotide polymorphism marker relevant to occurrence of congenital megacolon of Chinese population and application of single-nucleotide polymorphism marker

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Experimental program
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Effect test

Embodiment 1

[0037] Example 1: Selection and grouping basis of research objects

[0038] From April 2012 to April 2014, the blood of children with Hirschsprung who met the clinical diagnostic criteria of imaging and pathology and normal non-Hsirsprung children who were hospitalized at the same time were collected from the General Surgery Department of Children's Hospital Affiliated to Capital Institute of Pediatrics and intestinal tissue samples (where figure 1 as clinical diagnostic criteria of imaging, figure 2 115 cases each as the test subjects of peripheral blood single nucleotide polymorphisms (in the end, one case in the normal control group was excluded due to sample quality reasons, and the remaining 114 cases), a total of 229 cases of research subjects.

[0039] Specific sample classification criteria are as follows:

[0040] Group A: Hirschsprung group (n=115):

[0041] 1. Age between 0 and 156 months (average 16.1 months), including 82 males, accounting for 71.3% of the tot...

Embodiment 2

[0051] Embodiment 2: research object pathological diagnosis type

[0052] Radiological examination (lower gastrointestinal radiography, 24-hour barium enema), anorectal manometry, rectal manometry, etc. Wall histology biopsy for diagnosis of Hirschsprung disease. The characteristics of radiological examination including 24-hour barium enema are as follows: 1. A "cone"-shaped transitional separation zone can be seen between the lesion segment and the dilated segment; 2. Irregular contraction of the lesion segment; 3. Barium retention; 4. Rectum The spasm does not expand; 5. The intestinal wall is stiff and stiff. Anorectal manometry mainly manifests as the absence of internal anal sphincter relaxation reflex, the rhythmic contraction of anal canal is significantly reduced, and the resting pressure of the rectum and internal sphincter is higher than normal. Histological biopsy of the rectal wall mainly observed whether there were ganglion cells and the degree of cell developme...

Embodiment 3

[0053] Embodiment 3: Prepare the peripheral blood DNA sample of the research object of embodiment 1

[0054] a) Take 2ml of fresh heparin anticoagulated blood;

[0055] b) Add 4°C sterilized water to 40ml, turn over and mix;

[0056] c) Stand in a refrigerator at 4°C for 30 minutes, centrifuge at 3000 RPM for 20 minutes, and discard the supernatant;

[0057] d) Add 20ml of sterilized water at 4°C to the white blood cells at the bottom of the tube, shake lightly for several times, then add 400μl 10% Triton, then add sterilized water at 4°C to 40ml, shake lightly several times;

[0058] e) Centrifuge at 3000RPM for 20min, discard the supernatant;

[0059] f) Add 2ml of DNA extraction solution and shake vigorously until the clumps are basically dissolved. The composition of the DNA extraction solution (400ml) is: 0.5M EDTANa 2 (pH8.0) 8ml, 1M Tris hydrochloric acid (pH8.0) 4ml, 6M Nacl 0.66ml, deionized water 387.34ml;

[0060] g) Add 100 μl 10% SDS and 70 μl proteinase K (10...

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Abstract

The invention belongs to the fields of gene engineering and molecular genetics, and relates to a single-nucleotide polymorphism marker relevant to the occurrence of congenital megacolon of a Chinese population and application of the single-nucleotide polymorphism marker. The single-nucleotide polymorphism marker disclosed by the invention has specificity and sensibility for congenital megacolon of the Chinese population, can be used for preparing a reagent for diagnosing or screening congenital megacolon of infants (or children), effectively avoiding invasion detection and carrying out early screening and diagnosis before symptoms happen, and can also be used for judging disease sources through detecting the DNA of parents of sick children and evaluating disease risks for secondary fertility.

Description

field of invention [0001] The invention belongs to the field of genetic engineering and molecular genetics, and relates to a single nucleotide polymorphism marker related to the occurrence of Hirschsprung's disease in Chinese population and its application. Background technique [0002] Hirschsprung disease (Hirschsprung disease, HSCR, OMIM#142623), also known as intestinal aganglionosis, is the most common abnormality of the digestive tract in children that causes functional intestinal obstruction, and is a typical congenital abnormality of the enteric nervous system. The main pathological features are the absence of ganglion cells in the myenteric plexus and submucosal plexus of the diseased intestinal segment, accompanied by hyperplasia of nerve fibers, disturbance of intestinal neuroregulation, resulting in continuous abnormal contraction of the affected intestinal segment, and compensatory dilation and thickening of the proximal colon , forming megacolon. The main clin...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 姜茜李颀张震肖萍苏琳甘亮上官少方李龙
Owner 首都儿科研究所
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