Berkman N, Weir B S, Pressman-Schwartz S, Reshef A, Leitersdorf E
Department of Medicine B, Hadassah University Hospital, Jerusalem, Israel.
Hum Genet. 1992 Feb;88(4):405-10. doi: 10.1007/BF00215674.
Familial hypercholesterolemia (FH) results from mutations in the low density lipoprotein (LDL) receptor gene. It has been shown that restriction fragment length polymorphisms (RFLPs) associated with this gene may be used for family and population studies. The present investigation is a population-based study of 19 Jewish families with hypercholesterolemia representing 9 different countries of origin. Ten RFLP sites were used to construct 24 different haplotypes from 112 chromosomes. These haplotypes vary in frequency from 0.9% to 28.6%. Five previously undescribed haplotypes, which comprise 8.1% of the sample, are reported here. The six most common haplotypes account for 70% of the sample. Segregation analysis reveals that, in Israel, distinct LDL receptor haplotypes are associated with hypercholesterolemia in 12 (63%) out of the 19 Jewish families. Five LDL receptor haplotypes co-segregate with hypercholesterolemia. Two of these haplotypes seem to be unique to specific population groups in Israel and may therefore represent founder mutations.
家族性高胆固醇血症（FH）是由低密度脂蛋白（LDL）受体基因突变引起的。研究表明，与该基因相关的限制性片段长度多态性（RFLP）可用于家族和群体研究。本研究是一项基于人群的研究，对来自9个不同原籍国的19个患有高胆固醇血症的犹太家庭进行了调查。利用10个RFLP位点从112条染色体构建了24种不同的单倍型。这些单倍型的频率在0.9%至28.6%之间变化。本文报道了5种先前未描述的单倍型，占样本的8.1%。六种最常见的单倍型占样本的70%。分离分析显示，在以色列，19个犹太家庭中有12个（63%）的高胆固醇血症与不同的LDL受体单倍型相关。五种LDL受体单倍型与高胆固醇血症共分离。其中两种单倍型似乎是以色列特定人群所特有的，因此可能代表奠基者突变。
