Primer combination and method for detecting human embryo alpha-thalassemia gene mutation

Abstract

The invention provides a primer combination and method for detecting alpha-thalassemia gene mutation based on a high throughput sequencing technology. The primer combination comprises a specific amplification HBA gene and single nucleotide polymorphism (SNP) primers closely linked within the 2Mb ranges of the upstream and the downstream of the specific amplification HBA gene. The method has the advantages of universality, multi-site SNP sequencing, high throughput, low cost, high sensitivity and strong specificity, all alpha-thalassemia mutation can be detected before embryo transplantation, the detection process is rapider, and detection results are more accurate.

Description

technical field [0001] The invention provides a primer combination and method for detecting α-thalassemia gene mutations in human embryos based on high-throughput sequencing technology, and belongs to the technical field of gene detection. Background technique [0002] Thalassemia (hereinafter referred to as "thalassemia") is one of the most common human monogenic blood diseases in the world. It is listed by the World Health Organization as six common diseases that endanger human health. It is also the most common and most harmful disease in southern China genetic disease. In the high-incidence areas of α-thalassemia in southern my country, the total incidence rate is 2.46%, and the incidence rates in Guangxi, Guangdong, Jiangxi, Sichuan and Zhejiang provinces (districts) are 14.95%, 4.11%, 2.60%, 1.92% and 1.20% respectively. %. Thalassemia is divided into alpha-thalassemia and beta-thalassemia. At present, there is no effective cure for α-thalassemia, and the main focus ...

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Problems solved by technology

The mechanism of its occurrence is complicated, and it may be related to chromosomal mosaicism, haploid cells in some diploid cells, and the temperature of PCR denaturation. There is a region on the α-thalassemia HBA gene located at the short arm telomere of chromosome 16, and the homology High, low polymorphism, high GC and other reasons lead to the failure of PCR amplification, and there are few effective SNP sites to choose from, which ultimately leads to the failure of constructing haplotypes

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