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一例纯合型家族性高胆固醇血症家系的系谱调查分析
Analysis of a Pedigree with Homozygous Familial Hypercholesterolemia
【摘要】 <正> 我校附属二院于1984年5月收治一例纯合型家族性高胆固醇血症患者,已做了报告。家族性高胆固醇血症的纯合子的发生概率仅为百万分之一。本例与双亲近亲结婚
【Abstract】 Hypercholesterolemia,as a predisposing factor to atherosclerosis,has receivedmost attention recently.To elucidate the genetic nature of familial hypercholesterol-emia,a pedigree analysis of a homozygous familial hypercholesterolemia kindred wascarried out.Trimodality in the distribution of total plasma cholesterol values and thesegregation analysis provide evidence that this case of familial hypercholesterolemiais an autosomal dominant monogenic heredity.
- 【文献出处】 天津医药 ,Tianjin Medical Journal , 编辑部邮箱 ,1986年08期
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