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首页> 美国卫生研究院文献>American Journal of Human Genetics >Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.
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Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.

机译：卵磷脂胆固醇酰基转移酶（LCAT）的遗传控制：LCAT缺乏症大家庭中LCAT质量的测量。

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摘要

Lecithin-cholesterol acyltransferase (LCAT) mass was measured by radioimmunoassay in a large Sardinian kindred with LCAT deficiency. The frequency distribution of LCAT levels in the M-kindred demonstrated a trimodal distribution, one more corresponding to the normal controls and containing the normal relatives, a second mode completely separate from the controls and containing subjects with LCAT levels approximately one-half normal, and a third mode distinct from the other modes containing the two subjects with LCAT deficiency. Fifteen kindred members, including all six spouses, had enzyme levels of 4.92 +/- 0.49 microgram/ml (mean +/- SD), slightly lower but in the same range as controls (6.13 +/- 0.98; no. = 66). Twelve family members, including the two obligate heterozygotes, had enzyme levels of 2.68 +/- 0.32 microgram/ml, roughly one-half that of control levels. The LCAT-deficient subjects had enzyme levels of 0.30 and 0.37 microgram/ml, respectively. Segregation of the acyltransferase deficiency gene (LCATd) provided clear evidence of an autosomal recessive mode of inheritance of LCAT deficiency. Furthermore, the data strongly suggest that family members with half-normal enzyme levels are heterozygous carriers of the LCATd gene.
机译：卵磷脂胆固醇酰基转移酶（LCAT）的质量通过放射免疫测定法在一个大型的LCAT缺乏的撒丁岛亲属中进行测定。 M族中LCAT水平的频率分布显示出三峰分布，一种对应于正常对照并包含正常亲戚，另一种完全与对照分离并包含LCAT水平约为正常一半的受试者的第二种模式;第三模式不同于包含两个患有LCAT缺陷的受试者的其他模式。十五个亲属成员，包括所有六个配偶，其酶水平为4.92 +/- 0.49微克/毫升（平均+/- SD），稍低，但与对照处于同一范围（6.13 +/- 0.98；编号= 66） 。十二个家族成员（包括两个专性杂合子）的酶水平为2.68 +/- 0.32微克/毫升，约为对照水平的一半。缺乏LCAT的受试者的酶水平分别为0.30和0.37微克/毫升。酰基转移酶缺陷基因（LCATd）的分离提供了LCAT缺陷遗传的常染色体隐性模式的明确证据。此外，数据强烈暗示具有半正常酶水平的家族成员是LCATd基因的杂合载体。

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