通过单链构象多态性分析在低密度脂蛋白受体基因中检测到四个新的核苷酸序列多态性。
Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis.
作者信息
Yamakawa-Kobayashi K, Kobayashi T, Obara T, Hamaguchi H
机构信息
Department of Medical Genetics, University of Tsukuba, Japan.
出版信息
Hum Genet. 1993 Aug;92(1):76-8. doi: 10.1007/BF00216148.
Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new nucleotide sequence polymorphisms not previously described. The remaining three nucleotide changes were identical with restriction fragment length polymorphisms and a previously reported nucleotide sequence polymorphism. These nucleotide sequence polymorphisms, detectable by SSCP analysis, are useful genetic markers for linkage analysis of the LDL receptor gene and familial hypercholesterolemia.
采用单链构象多态性（SSCP）分析，随后对扩增的DNA进行直接序列分析，在低密度脂蛋白（LDL）受体基因的外显子内检测到七个核苷酸序列多态性。核苷酸位置1617、1725、2232和2635处的四个核苷酸变化是先前未描述的新核苷酸序列多态性。其余三个核苷酸变化与限制性片段长度多态性和先前报道的核苷酸序列多态性相同。这些可通过SSCP分析检测到的核苷酸序列多态性，是用于LDL受体基因和家族性高胆固醇血症连锁分析的有用遗传标记。
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