Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
复制标题
对来自印度次大陆的三个明显不相关的亲属的生长激素释放激素受体基因座进行单倍型分析，这些亲属具有相同的 GHRH 受体突变。
DOI：
10.1002/ajmg.a.10209
复制
发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Leibel,RudolphL
中科院分区：
文献类型：
--
作者：
Wajnrajch,MichaelP;Gertner,JosephM;Sokoloff,AlisaS;Ten,Irina;Harbison,MadeleineD;Netchine,Irène;Maheshwari,HiralalG;Goldstein,DavidB;Amselem,Serge;Baumann,Gerhard;Leibel,RudolphL
生长激素释放激素受体（GHRHR）在生长中起着关键作用。我们确定了三个名义上不相关的激酶窝藏相同的突变（E72X）inGHRHR，基因编码GHRHR，所有三个家庭起源于印度次大陆。由于这些人群的地理位置相对接近，我们在GHRHR区域进行了单倍型分析，以确定这种突变发生在共同祖先中而不是发生在不同个体中的可能性。分离E72X突变的所有三种激酶的成员在染色体7p15上GHRHR周围的15.5厘摩（cM）区域中进行高度多态性二核苷酸重复微卫星基因分型。我们的结论是，受影响的个人有一个共同的祖先，我们使用与连锁标记的关联来估计这种独特突变的年龄。© 2003 Wiley利斯公司
The growth hormone releasing hormone receptor (GHRHR) plays a critical role in growth. We identified three nominally unrelated kindreds harboring the identical mutation (E72X) inGHRHR, the gene that encodes GHRHR; all three families originated in the Indian subcontinent. Because of the relative geographic proximity of these populations, we employed haplotype analysis in the region ofGHRHRto determine the likelihood that this mutation occurred in a common ancestor rather than having occurred on separate occasions in different individuals. Members of all three kindreds segregating the E72X mutation were genotyped for highly polymorphic dinucleotide repeat microsatellites in a 15.5 centimorgan (cM) region aroundGHRHRon chromosome 7p15. We conclude that the affected individuals share a common ancestor, and we use the association with linked markers to estimate the age of this unique mutation. © 2003 Wiley‐Liss, Inc.