对抑制素 α 基因的突变分析显示，印度早发性卵巢功能衰竭女性中存在三种新的变异。
Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure.
机构信息
Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Andhra Pradesh, India.
出版信息
Fertil Steril. 2010 Jun;94(1):90-8. doi: 10.1016/j.fertnstert.2009.02.014. Epub 2009 Mar 26.
OBJECTIVE
To determine the prevalence of inhibin alpha gene variants in Indian women with premature ovarian failure.
DESIGN
Mutational analysis of DNA from patients and control subjects.
SETTING
Clinical genetics and molecular cytogenetic laboratory.
PATIENTS(S): One hundred 46,XX women with premature ovarian failure and 50 healthy control subjects <40 years old.
INTERVENTION(S): Blood samples were collected.
MAIN OUTCOME MEASURE(S): Extraction of DNA from blood samples, amplification of inhibin alpha gene, restriction fragment length polymorphism (RFLP), and direct DNA sequencing.
RESULT(S): The RFLP analysis revealed a 769G-->A missense inhibin alpha mutation. There were three inhibin alpha gene sequence variants that resulted in a change from 734 C-->A/Ala 245 Asp, 755 C-->A/Pro 252 His, and 777 C-->A/His 259 Gln by DNA sequencing.
CONCLUSION(S): Variants in the inhibin alpha gene are strongly associated with premature ovarian failure in Indian patients.
目的
确定印度早发性卵巢功能衰竭女性中抑制素 alpha 基因突变的流行情况。
设计
对患者和对照个体的 DNA 进行突变分析。
地点
临床遗传学和分子细胞遗传学实验室。
患者
100 例 46,XX 早发性卵巢功能衰竭女性和 50 名年龄<40 岁的健康对照者。
干预
采集血样。
主要观察指标
从血样中提取 DNA，扩增抑制素 alpha 基因，进行限制片段长度多态性（RFLP）分析和直接 DNA 测序。
结果
RFLP 分析显示存在 769G-->A 错义抑制素 alpha 突变。通过 DNA 测序发现了三种抑制素 alpha 基因序列变异，导致 734C-->A/Ala 245 Asp、755C-->A/Pro 252 His 和 777C-->A/His 259 Gln 改变。
结论
抑制素 alpha 基因突变与印度患者的早发性卵巢功能衰竭密切相关。
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