南阳牛HCRTR1基因编码区单核苷酸多态性分析

 【目的】研究南阳牛HCRTR1基因编码区单核苷酸多态性，为利用遗传标记进行肉牛选育奠定基础。【方法】以122头南阳牛为试验动物，利用PCR-SSCP及测序方法研究了HCRTR1基因全部编码区序列的多态性，并对发现的SNP位点进行了遗传特性及单倍型分析。【结果】在该基因的编码区首次发现11个SNP位点，分别为G322A、G384C、T420C、C423T、T481A、C510A、T627C、C631T、G690A、G714A和C736T，其中在322、481、631和736bp处的突变都导致了氨基酸的改变，而其余7处均为同义突变。在322、510和736 bp处的SNP表现为中度多态，PIC分别为0.3731、0.3190和0.2851，其余8处的SNP位点均呈现低度多态。对多态位点进行单倍型分析，发现在南阳牛122个个体中共检测到29种单倍型, 其中有2种单倍型的频率超过了10%；7种单倍型的频率小于1%；其余20种单倍型的频率均在1%～10%。【结论】本研究测定了南阳牛122个个体的HCRTR1基因的多态性，在全部编码区检测到11个多态性单核酸变异，构成了29种单倍型。

Single Nucleotide Polymorphisms(SNPs)in Hypocretin Receptor 1(HCRTR1)Gene of Nanyang Cattle

The Single nucleotide polymorphisms (SNPs) of 122 Nanyang cattle were detected for coding region of hypocretin receptor1 (HCRTR1) gene. Eleven SNP loci including 322 : G/A; 384:G/C; 420: T/C; 423: C/T; 481:T/A; 510:C/A; 627: T/C; 631:C/T; 690:G/A; 714:G/A and 736: C/T were found. The discovered SNPs were deposited in GenBank with accession No.: DQ981401, DQ986909, DQ986910, DQ986911, DQ986912, DQ986913, DQ986914, DQ901743, DQ986915, DQ986916 and DQ901742. The variation at 322，481，631 and 736 bp caused amino acid mutation，variation at the other 7 SNP loci were synonymity. Polymorphism information content(PIC), number of effective alleles(Ne) and heterozygosity(h) were also analyzed. three SNP loci (322 bp，510 bp and 736 bp) were moderate polymorphisms(0.3731, 0.3190 and 0.2851 respectively) while the left SNP loci showed low polymorphism(<0.25). The trends of heterozygosities were consistent with that of PIC. The SNP loci showed higher PIC as well as the higher heterozygosities.