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Method, system and computer readable medium for determining SNP information in a predetermined region of a chromosome

A technology of predetermined regions and chromosomes, applied in the field of biomedicine, can solve the problems of inability to directly detect disease-causing sites and needs to be improved, and achieve the effects of shortening the detection cycle, reducing detection costs, and improving sensitivity and accuracy

Active Publication Date: 2021-08-03
BGI GENOMICS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, the chip can only be used for indirect detection by haplotype analysis, but not for direct detection of disease-causing sites.
[0007] Therefore, the current methods for determining SNP information in chromosomes, especially in predetermined regions of embryonic chromosomes, still need to be improved

Method used

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  • Method, system and computer readable medium for determining SNP information in a predetermined region of a chromosome
  • Method, system and computer readable medium for determining SNP information in a predetermined region of a chromosome
  • Method, system and computer readable medium for determining SNP information in a predetermined region of a chromosome

Examples

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Embodiment 1

[0123] In this example, the samples of a phenylketonuria (classic) family (family 1, autosomal recessive inheritance) and a reproductive progressive muscular dystrophy (DMD) family (family 2) were tested using general methods and detection procedures. , X-chromosome recessive inheritance) samples were tested. A couple in the family obtained 7 embryos through IVF, and used MF-PCR method for PAH gene detection. Two normal embryos were screened out for implantation, and finally a baby girl was obtained. The baby girl was confirmed to be normal by umbilical cord blood genetic testing. The two couples in the family obtained 9 embryos through IVF, and used MF-PCR method for DMD gene PGD, screened out 3 normal embryos, selected 2 of them for implantation, and finally obtained a baby boy (one of the embryos did not develop), and passed the umbilical cord Blood genetic testing confirmed that the baby boy was normal.

[0124] One sample in the pedigree included the peripheral blood of ...

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Abstract

The present invention provides a method, system and computer-readable medium for determining SNP information in a predetermined region of a chromosome. Wherein, the method for determining the SNP information in the predetermined region of the chromosome includes: constructing a sequencing library for at least a part of the chromosome; Knowing at least one of the SNP sites, so as to obtain target capture fragments, the target capture fragments comprising SNP sites; sequencing the screened sequencing library, so as to obtain sequencing results; and based on the sequencing results, determining the predetermined region SNP information in .

Description

[0001] priority information [0002] none technical field [0003] The present invention relates to the field of biomedicine, in particular to a method, a system and a computer-readable medium for determining SNP information in a predetermined region of a chromosome. Background technique [0004] According to the 2012 World Health Organization report on the prevention and treatment of birth defects, the total incidence of birth defects in the world is 3%, and 3.2 million children with birth defects are born every year, of which 270,000 newborns die due to birth defects. Studies have shown that the vast majority of birth defects are related to genetic factors, and chromosomal abnormalities and single-gene genetic diseases are two important reasons. Among them, there are many types of monogenic genetic diseases with different incidence rates, and most of these diseases cannot be cured, which brings heavy economic and psychological burdens to the whole society and families. T...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6827G01N35/00
CPCC12Q1/6827C12Q2531/113C12Q2535/122C12Q2565/519
Inventor 李剑张现东李金良刘赛军叶敏兰
Owner BGI GENOMICS CO LTD
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