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.


Journal Article

The growth hormone releasing hormone receptor (GHRHR) plays a critical role in growth. We identified three nominally unrelated kindreds harboring the identical mutation (E72X) in GHRHR, 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 of GHRHR to 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 around GHRHR on 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.

Full Text

Cited Authors

  • Wajnrajch, MP; Gertner, JM; Sokoloff, AS; Ten, I; Harbison, MD; Netchine, I; Maheshwari, HG; Goldstein, DB; Amselem, S; Baumann, G; Leibel, RL

Published Date

  • July 2003

Published In

Volume / Issue

  • 120A / 1

Start / End Page

  • 77 - 83

PubMed ID

  • 12794696

Pubmed Central ID

  • 12794696

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.10209


  • eng