TY - JOUR
T1 - Genotype analysis of the neuropeptide Y (NPY) Y1 and NPY Y5 receptor genes in gonadotropin-releasing hormone-dependent precocious gonadarche
AU - Barker-Gibb, Mandi
AU - Plant, Tony M.
AU - White, Carlie
AU - Lee, Peter A.
AU - Feldman Witchel, Selma
N1 - Funding Information:
Supported by the National Institutes of Health, grants R29 HD34808 (S.F.W.), 5M01-RR-00084 (G.C.R.C.) and R01 HD-13254 (T.M.P.) and by the American Heart Association (S.F.W.).
PY - 2004/8
Y1 - 2004/8
N2 - To test whether GnRH-dependent precocious puberty (precocious gonadarche) is associated with loss-of-function mutations in the genes encoding the NPY Y1 and Y5 receptors, we used single-stranded conformation polymorphism analysis to assess for mutations in 15 patients with precocious gonadarche (mean age, 6.84 ± 2.07 years) and in 72 controls. Although variants were not identified in the NPY Y1 receptor gene, 4 patients and 20 control subjects carried a G→A transition resulting in a silent variant, G426G, suggesting that NPY Y1 and Y5 receptor variants do not play a major role in our patient population.
AB - To test whether GnRH-dependent precocious puberty (precocious gonadarche) is associated with loss-of-function mutations in the genes encoding the NPY Y1 and Y5 receptors, we used single-stranded conformation polymorphism analysis to assess for mutations in 15 patients with precocious gonadarche (mean age, 6.84 ± 2.07 years) and in 72 controls. Although variants were not identified in the NPY Y1 receptor gene, 4 patients and 20 control subjects carried a G→A transition resulting in a silent variant, G426G, suggesting that NPY Y1 and Y5 receptor variants do not play a major role in our patient population.
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U2 - 10.1016/j.fertnstert.2003.12.040
DO - 10.1016/j.fertnstert.2003.12.040
M3 - Article
C2 - 15302312
AN - SCOPUS:4143117791
SN - 0015-0282
VL - 82
SP - 491
EP - 494
JO - Fertility and sterility
JF - Fertility and sterility
IS - 2
ER -