利用通过聚合酶链反应（PCR）扩增检测到的两个基因内多态性对人生长激素释放因子基因（GHRF）进行遗传定位。

Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification.

作者信息

Pérez Jurado L A, Phillips J A, Summar M L, Mao J, Weber J L, Schaefer F V, Hazan J, Argente J

机构信息

Vanderbilt University School of Medicine, Nashville, Tennessee.

出版信息

Genomics. 1994 Mar 1;20(1):132-4. doi: 10.1006/geno.1994.1140.

DOI:10.1006/geno.1994.1140

PMID:8020943

Abstract

We have analyzed the human growth hormone-releasing factor (GHRF) gene by high-resolution restriction mapping of its PCR amplification products. Two intragenic PCR fragment length polymorphisms (PCRFLPs) were detected in introns A and C of the GHRF gene, whose heterozygosities are 40 and 7%, respectively. Linkage analysis using the CEPH panel showed that GHRF is linked to several markers on chromosome 20 and assigned the GHRF locus to a region near the centromere between D20S27 (assigned to 20p12.1-p11.23) and D20S16 (assigned to 20q12). These intragenic PCRFLPs and the tightly linked polymorphisms should provide useful markers for linkage studies of GHRF alleles in familial disorders of growth such as isolated growth hormone deficiency.

摘要

我们通过对人生长激素释放因子（GHRF）基因的PCR扩增产物进行高分辨率限制性图谱分析，对该基因进行了研究。在GHRF基因的A和C内含子中检测到两个基因内PCR片段长度多态性（PCRFLP），其杂合度分别为40%和7%。使用CEPH家系进行的连锁分析表明，GHRF与20号染色体上的几个标记连锁，并将GHRF基因座定位到着丝粒附近、D20S27（定位于20p12.1-p11.23）和D20S16（定位于20q12）之间的区域。这些基因内PCRFLP以及紧密连锁的多态性，应为诸如孤立性生长激素缺乏症等家族性生长障碍中GHRF等位基因的连锁研究提供有用的标记。