选取与性发育调控相关的重要基因黄体生成素β亚基(LHβ)和卵泡刺激素β亚基(FSHβ)基因,通过对27例病例样本中5′转录调控区测序,观察到4个新单核苷酸多态性位点(LHβ-1424 C/G,LHβ-238 G/A,FSHβ-261 G/T,FSHβ-132 T/A)。在283例中国女性真性性早熟病例和284例正常女性(对照组)中,对LHβ和FSHβ基因的4个单核苷酸多态性位点分型。相关性分析结果显示:LHβ和FSHβ的5′上游转录调控区中的多态性位点与中国女性真性性早熟无显著相关性。
In this paper, four single nueleotide polymorphisms(LHβ-1424 C/G, LHβ -238 G/A, FSHβ -261 G/T, FSHβ -132 T/A) in the 5′ upstream regions of LHβ and FSHβ were found in 27 case samples by sequencing. And these four SNPs were genotyped in 283 chinese girls suffered central precocious puberty(CPP) and 284 normal girls. Results show that the association of four polymorphisms in the 5′ upstream regions of LHβ and FSHβ with CPP is not significant (P〉0.05). And there is no relationship between the CPP and the SNPs in the transcriptional regulation region of LHβ and LHβ.