通过单链构象多态性（SSCP）鉴定促黄体生成素β亚基基因中的七个新突变。
Identification of seven novel mutations in LH beta-subunit gene by SSCP.
作者信息
Roy A C, Liao W X, Chen Y, Arulkumaran S, Ratnam S S
机构信息
Department of Obstetrics and Gynaecology, National University of Singapore, National University Hospital, Singapore.
出版信息
Mol Cell Biochem. 1996 Dec 20;165(2):151-3. doi: 10.1007/BF00229477.
PMID:8979264
Abstract
Seven new point mutations have been identified from LH beta-subunit gene by PCR-mediated SSCP, and sequencing. One mutation was found changing amino acid from Gln102 to Ser102. The remaining six mutations, which did not change the codings, were in complete linkage disequilibrium. SSCP can be used in the diagnosis of LH-related disorders.
摘要
通过聚合酶链反应介导的单链构象多态性分析（PCR - mediated SSCP）和测序，已从促黄体生成素β亚基（LH beta - subunit）基因中鉴定出七个新的点突变。发现一个突变导致氨基酸从谷氨酰胺102变为丝氨酸102。其余六个未改变编码的突变处于完全连锁不平衡状态。SSCP可用于诊断与LH相关的疾病。
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