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Method for screening Wilson disease gene mutation in family by using linkage disequilibrium

A technology of linkage disequilibrium and pedigree, applied in the field of molecular biology, can solve the problems of easy misdiagnosis and missed diagnosis, high serum ceruloplasmin content, etc., and achieve the effect of low cost

Active Publication Date: 2014-05-28
李卫东
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Problems solved by technology

However, these clinical manifestations are often missing, such as neurological and psychiatric symptoms do not appear early in the disease in young children, and the accuracy of biochemical indicators will also be affected by other factors, such as exogenous estrogen or pregnancy. Serum ceruloplasmin levels can be elevated, and these factors can also increase serum ceruloplasmin levels above the low normal value in individuals with Wilson disease
None of the existing examinations can be used as an indicator for diagnosis, which is prone to misdiagnosis and missed diagnosis

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  • Method for screening Wilson disease gene mutation in family by using linkage disequilibrium

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Embodiment Construction

[0007] In families with patients, the gene mutation status of the proband and siblings (or relatives within the third degree) should be detected at the same time. Taqman probes were designed for 6 SNP sites, and the genotype status of each site was identified by real-time fluorescent quantitative polymerase chain reaction (ploymerase chain reaction). Haplotypes were constructed using the above 6 SNP sites. Comparing the haplotypes of the relatives of the proband and the proband, Wilson Disease is an autosomal recessive genetic disease. If the haplotype is exactly the same as that of the proband, it is a patient (homozygous), and if it is completely different, it is a normal individual. The same is the carrier (heterozygote).

[0008]

[0009] Note: The table is the position and gene frequency of the 6 SNP loci on the chromosome.

[0010] The present invention does not require DNA sequencing, relies on 6 SNP sites to determine the gene mutation status of probands and famil...

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Abstract

The invention discloses a method for screening Wilson disease gene mutation in a family by using linkage disequilibrium, which is based on a linkage disequilibrium principle, by a mononucleotide polymorphism genetic typing method, six mononucleotide polymorphism sites are used for determining genotype state of hepatolenticular degeneration patients and its brothers and sisters (or relatives in three levels), and then a haplotype of other members in family is compared with a haplotype of a propositus for determining the sufferers or heterozygosis carriers.

Description

technical field [0001] The invention belongs to the field of molecular biology. Specifically, the invention relates to a method for screening Wilson disease gene mutations in families by using linkage disequilibrium, especially a detection method for family screening. Background technique [0002] Hepatolenticular degeneration, also known as Wilson Disease (WD), is a relatively common autosomal recessive genetic disease. Its causative gene is ATP7B, and the carrier rate in the Chinese Han population is 1 / 50. The incidence of Wilson Disease It is progressive. If the homozygous mutation can be found early, copper removal therapy can be performed, but if it is found later, it will cause irreversible nerve damage. The ATP7B gene is relatively large, and the cost of DNA sequencing is very high. Plasma ceruloplasmin detection is used for screening, but its sensitivity is not as good as that of DNA sequencing, and the detection of carriers is the biggest limitation of ceruloplasmin...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 李卫东杨付花
Owner 李卫东
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