Abstract | OBJECTIVES: METHODS: PCR-RFLP analysis method was applied in the typing of six activity SNPs in five genes in two groups: 176 precocious puberty girls as case and 192 healthy girls as control. RESULTS: The typing results showed that the frequencies of the allele CYP21 L282 polymorphism were 32.7% and 32.6% in case and control groups (P=0.518), respectively. For IRS-1 R972, they were 0.6% in cases and 2.3% in controls (P=0.043), for ADRB3 R64, 13.6% in cases and 12% in controls (P=0. 378), and for GRL S363, 7.4% in cases and 5.73% in controls (P=0.335). No sample in the two groups carries the variation of CYP21 I172N and HSD3B2 L236S. CONCLUSION: Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.
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Authors | Xiujuan Xin, Junhua Xiao, Xiaohui Luan, Yuxun Zhou, Daru Lu, Dongzhi Wei, Shengli Yang |
Journal | Neuro endocrinology letters
(Neuro Endocrinol Lett)
2006 Feb-Apr
Vol. 27
Issue 1-2
Pg. 219-24
ISSN: 0172-780X [Print] Sweden |
PMID | 16648810
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Adrenal Cortex Hormones
- Gonadal Steroid Hormones
- IRS1 protein, human
- Insulin Receptor Substrate Proteins
- Phosphoproteins
- Receptors, Adrenergic, beta-3
- Receptors, Glucocorticoid
- 3-Hydroxysteroid Dehydrogenases
- Steroid 21-Hydroxylase
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Topics |
- 3-Hydroxysteroid Dehydrogenases
(genetics)
- Adrenal Cortex Hormones
(metabolism)
- Alleles
- Child
- China
(epidemiology)
- Female
- Gene Frequency
- Genotype
- Gonadal Steroid Hormones
(blood)
- Humans
- Insulin Receptor Substrate Proteins
- Molecular Sequence Data
- Phosphoproteins
(genetics)
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single Nucleotide
- Puberty, Precocious
(genetics, metabolism)
- Receptors, Adrenergic, beta-3
(genetics)
- Receptors, Glucocorticoid
(genetics)
- Steroid 21-Hydroxylase
(genetics)
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