使用PCR-RFLP和PCR-PIRA方法对弗里斯兰马进行基因分型，以检测B3GALNT2基因中与脑积水相关的c.1423C>T突变：墨西哥种公马中的频率

Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México.

作者信息

Ayala-Valdovinos Miguel Angel, Galindo-García Jorge, Sánchez-Chiprés David, Duifhuis-Rivera Theodor

机构信息

Departamento de Producción Animal, División de Ciencias Veterinarias, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, A.P. 218 Zapopan 1, C.P. 45101, Zapopan, Jalisco, Mexico.

出版信息

Mol Cell Probes. 2017 Apr;32:69-71. doi: 10.1016/j.mcp.2016.12.005. Epub 2016 Dec 21.

DOI:10.1016/j.mcp.2016.12.005

PMID:28011345

Abstract

Hydrocephalus in Friesian horses is an autosomal recessive hereditary disease that can result in an abortion, a stillbirth, or euthanization of a newborn foal. Here, the hydrocephalus-associated c.1423C > T mutation in B3GALNT2 gene was detected with PCR-RFLP and PCR-PIRA methods for horse genotyping. A preliminary genotyping survey was performed on 83 randomly selected Friesian stallion horses to determine the current allele frequency in Mexico. The frequency of the mutant T allele was 9.6%.

摘要

弗里斯兰马的脑积水是一种常染色体隐性遗传病，可导致流产、死产或新生马驹的安乐死。在此，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和聚合酶链反应-引物侵入性反应分析（PCR-PIRA）方法检测B3GALNT2基因中与脑积水相关的c.1423C>T突变，用于马匹基因分型。对83匹随机挑选的弗里斯兰种公马进行了初步基因分型调查，以确定墨西哥目前的等位基因频率。突变T等位基因的频率为9.6%。