SNP (Single Nucleotide Polymorphism) marker site related to bovine erythrocyte membrane structure and application of SNP marker site

Abstract

The invention relates to an SNP (Single Nucleotide Polymorphism) marker site related to a bovine erythrocyte membrane structure and application thereof, and belongs to the field of gene engineering. The SNP marker is located at a G108C site (chr10: 77230398) of a 19th exon of an SPTB gene of a No.10 chromosome of cattle, the site is subjected to non-synonymous mutation (glutamic acid is changed into aspartic acid, Glu1370Asp), and the relative index of whole blood high shear of a CC genotype individual is remarkably lower than that of a GG or GC genotype individual (Plt, 0.01), so that the CC genotype has higher erythrocyte deformability; the hypoxia tolerance and plateau adaptability of CC genotype individuals are obviously higher than those of GG or GC genotype individuals. The SNP site on the SPTB gene related to the bovine erythrocyte membrane structure and hypoxia tolerance can be used as a molecular marker for bovine hypoxia tolerance or breeding plateau hypoxia environment-resistant cattle, and meanwhile, the SNP site has important significance on preservation and utilization of bovine characteristic genes.

Description

technical field [0001] The invention belongs to the field of genetic engineering, and specifically relates to a SNP marking site related to bovine erythrocyte membrane structure and its application. Background technique [0002] Hereditary spherocytosis (HS) is a group of inherited disorders characterized by the presence of spherical red blood cells on peripheral blood smears and is caused by mutations in genes that regulate red blood cell membrane proteins. HS is characterized by anemia, jaundice, splenomegaly, and cholelithiasis. The mutation of SPTB gene encoding β-spectrin subunit leads to spherocytosis type 2. SPTB gene is a common pathogenic gene in HS except ANK1 gene. It is located on chromosome 14q23-q24.2 and consists of 32 exons. β-spectrin is a multifunctional protein consisting of two subunits, α and β, which, despite some similarities, are structurally distinct and encoded by different genes (Speicher et al. 1984) . α and β spectrin chains intertwine in an ...

AI Technical Summary

Problems solved by technology

In recent years, many genes related to hypoxia adaptation have been discovered through the research on plateau indigenous residents and plateau animals, but there is no relevant report on the role of SPTB gene in animal hypoxia adaptation in China

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