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

Michael P. Wajnrajch; Joseph M. Gertner; Alisa S. Sokoloff; Irina Ten; Madeleine D. Harbison; Irène Netchine; Hiralal G. Maheshwari; David B. Goldstein; Serge Amselem; Gerhard Baumann; Rudolph L. Leibel

doi:10.1002/ajmg.a.10209

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

Michael P. Wajnrajch, Joseph M. Gertner, Alisa S. Sokoloff, Irina Ten, Madeleine D. Harbison, Irène Netchine, Hiralal G. Maheshwari, David B. Goldstein, Serge Amselem, Gerhard Baumann, Rudolph L. Leibel

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21 Scopus citations

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.

Original language	English
Pages (from-to)	77-83
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	120 A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.10209
State	Published - 1 Jul 2003
Externally published	Yes

Keywords

GH releasing hormone receptor (GHRHR)
Genotyping
Growth hormone (GH)
Little
Microsatellite
South Asia

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10.1002/ajmg.a.10209

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Wajnrajch, M. P., Gertner, J. M., Sokoloff, A. S., Ten, I., Harbison, M. D., Netchine, I., Maheshwari, H. G., Goldstein, D. B., Amselem, S., Baumann, G., & Leibel, R. L. (2003). 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. American Journal of Medical Genetics, Part A, 120 A(1), 77-83. https://doi.org/10.1002/ajmg.a.10209

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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.",

keywords = "GH releasing hormone receptor (GHRHR), Genotyping, Growth hormone (GH), Little, Microsatellite, South Asia",

author = "Wajnrajch, {Michael P.} and Gertner, {Joseph M.} and Sokoloff, {Alisa S.} and Irina Ten and Harbison, {Madeleine D.} and Ir{\`e}ne Netchine and Maheshwari, {Hiralal G.} and Goldstein, {David B.} and Serge Amselem and Gerhard Baumann and Leibel, {Rudolph L.}",

year = "2003",

month = jul,

day = "1",

doi = "10.1002/ajmg.a.10209",

language = "English",

volume = "120 A",

pages = "77--83",

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Wajnrajch, MP, Gertner, JM, Sokoloff, AS, Ten, I, Harbison, MD, Netchine, I, Maheshwari, HG, Goldstein, DB, Amselem, S, Baumann, G & Leibel, RL 2003, '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', American Journal of Medical Genetics, Part A, vol. 120 A, no. 1, pp. 77-83. https://doi.org/10.1002/ajmg.a.10209

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. / Wajnrajch, Michael P.; Gertner, Joseph M.; Sokoloff, Alisa S. et al.
In: American Journal of Medical Genetics, Part A, Vol. 120 A, No. 1, 01.07.2003, p. 77-83.

Research output: Contribution to journal › Article › peer-review

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AU - Leibel, Rudolph L.

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AB - 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.

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JF - American Journal of Medical Genetics, Part A

IS - 1

ER -

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

Keywords

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