Τίτλος:
Absence of the genetic variant Val(79)Met in human chorionic
gonadotropin-beta gene 5 in five European populations
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Chorionic gonadotropin (CG) is an essential signal in establishment and
maintenance of pregnancy in humans and higher primates. A G-to-A
transition in exon 3 of human CGbeta gene 5, changing the naturally
occurring valine residue to methionine in codon 79 (Val(79)Met) has been
reported at carrier frequency 4.2% in a random population from the
Midwest of the United States. The biological activity of the variant hCG
was similar to that of wild-type (WT) hCG. However, the Val(79)Met
beta-subunit displayed impaired ability to assemble with alpha-subunit,
and the amount of hCG alpha/beta heterodimers formed and secreted by
transfected cells was seriously impaired in the previous study. Because
of these functional implications we found it important to study the
occurrence of the Val(79)Met hCGbeta variant in other populations. By
using a PCR-RFLP method, a search for the Val(79)Met hCGbeta variant was
carried out on a total of 580 DNA samples from five European populations
(Finland, Denmark, Greece, Germany and the UK). The results demonstrated
an absence of the polymorphism in these populations. Hence, the
naturally occurring variant (Val(79)Met) of the hCGbeta gene 5, found
previously at high frequency in the US, is clearly less common, or
absent, in the European populations studied.
Συγγραφείς:
Jiang, M
Savontaus, ML
Simonsen, H
Williamson, C and
Mullenbach, R
Gromoll, J
Terwort, N
Alevizaki, M and
Huhtaniemi, I
Περιοδικό:
MOLECULAR HUMAN REPRODUCTION
Εκδότης:
Oxford University Press
Λέξεις-κλειδιά:
genetic variant; hCG beta 5; PCR
DOI:
10.1093/molehr/gah098
