台湾孕妇黑素形成相关单核苷酸多态性分布

Yeong-Hwa Zen , Hsin-Ju Wu , Chieh-Ling Hsu , Jia-Yuan Chang , Fu-Yen Chung
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摘要

皮肤色素沉着有时发生在怀孕期间的脸。黑色素的产生受遗传因素的调控,并受环境和内分泌因素的模拟。然而,台湾人群中遗传变异与皮肤色素沉着之间的相关性却很少。在本研究中,我们测量了面部黑色素值,并分析了富银大学医院孕妇的单核苷酸多态性(snp)基因型。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对4个snp (TYR rs7129973、SLC45A2 rs26722、KITLG rs642742和ESR2 rs1271572)进行分析,并用meexameter测定黑色素值。结果表明,TYR rs7129973 A等位基因、SLC45A2 rs26722 G等位基因、KITLG rs642742 A等位基因和ESR2 rs1271572 T等位基因的等位基因频率分别为75.0%、54.5%、43.8%和42.0%。本文首次报道台湾孕妇黑色素形成的遗传变异。然而,snp与皮肤色素沉着的关系需要进一步研究。
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Distribution of melanogenesis-related single nucleotide polymorphisms in pregnant Taiwanese women

Skin hyperpigmentation sometimes occurs on the face during pregnancy. The production of melanin is regulated by genetic factors and simulated by environmental and endocrine factors. However, there is little information about the correlation between genetic variation and skin hyperpigmentation in Taiwanese populations. In the present study, we measured the facial melanin values and analyzed the genotypes of single nucleotide polymorphisms (SNPs) from pregnant women at Fooyin University Hospital. Four SNPs (TYR rs7129973, SLC45A2 rs26722, KITLG rs642742, and ESR2 rs1271572) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the melanin values were measured by Mexameter. The results show that allele frequencies of the TYR rs7129973 A allele, SLC45A2 rs26722 G allele, KITLG rs642742 A allele, and ESR2 rs1271572 T allele were 75.0%, 54.5%, 43.8%, and 42.0%, respectively. This is the first report about genetic variation of melanogenesis in pregnant women from Taiwan. However, the association of SNPs with skin hyperpigmentation needs further investigation.

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