title: 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.
abstract: 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.
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA. mpwajnr@med.cornell.edu
authors.forename: Michael P
authors.initials: MP
authors.lastname: Wajnrajch
authors.forename: Joseph M
authors.initials: JM
authors.lastname: Gertner
authors.forename: Alisa S
authors.initials: AS
authors.lastname: Sokoloff
authors.forename: Irina
authors.initials: I
authors.lastname: Ten
authors.forename: Madeleine D
authors.initials: MD
authors.lastname: Harbison
authors.forename: Irène
authors.initials: I
authors.lastname: Netchine
authors.forename: Hiralal G
authors.initials: HG
authors.lastname: Maheshwari
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.forename: Gerhard
authors.initials: G
authors.lastname: Baumann
authors.forename: Rudolph L
authors.initials: RL
authors.lastname: Leibel
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D005192:Family Health; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018013:Receptors, Neuropeptide / Q000235:genetics*; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; C048250:somatotropin releasing hormone receptor