Pena R N, Sánchez A, Folch J M
Departament de Patologia i Producció Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, España.
J Dairy Res. 2000 May;67(2):217-24. doi: 10.1017/s0022029900004155.
Two new variants have been detected and characterized for the goat beta-lactoglobulin gene at the cDNA level and confirmed at the genomic level. The two polymorphisms are located on exon 7 of the gene. One of the polymorphic sites is produced by a single nucleotide substitution in position +4601, allowing a polymerase chain reaction--restriction fragment length polymorphism (PCR-RFLP) genotyping procedure to be developed using SacII restriction enzyme. The other polymorphic position contains a 10 bp long insertion at position +4641 that can be detected by capillary electrophoresis of the PCR product amplified with a fluorescent primer. The association of these two polymorphisms was also investigated, resulting in the description of two new alleles. Both of these contained the point mutation at the SacII site, with or without the 10 bp insertion at position +4641. The distribution of these new polymorphisms was studied in a population of males of four different goat breeds. The gene frequencies for these variants were similar in Spanish and French breeds.
在cDNA水平上检测并鉴定了山羊β-乳球蛋白基因的两个新变体，并在基因组水平上得到了证实。这两个多态性位于该基因的第7外显子上。其中一个多态性位点是由+4601位的单核苷酸替换产生的，这使得可以使用SacII限制酶开发一种聚合酶链反应-限制性片段长度多态性（PCR-RFLP）基因分型程序。另一个多态性位点在+4641位含有一个10 bp长的插入片段，可通过用荧光引物扩增的PCR产物的毛细管电泳检测到。还研究了这两个多态性的关联，从而描述了两个新等位基因。这两个等位基因都在SacII位点含有点突变，有或没有+4641位的10 bp插入片段。在四个不同山羊品种的雄性群体中研究了这些新多态性的分布。这些变体的基因频率在西班牙和法国品种中相似。
