Utermann G, Menzel H J, Dieker P, Langer K H, Fiorelli G
Clin Genet. 1981 Jun;19(6):448-55. doi: 10.1111/j.1399-0004.1981.tb02063.x.
Thirty-four members of a single Sardinian kindred with lecithin-cholesterol-acyltransferase deficiency have been studied. The kindred spans four generations and the parents of the two affected siblings are blood relatives. Segregation of the acyltransferase deficiency gene in the family clearly demonstrated an autosomal recessive mode of inheritance. Thirteen family members, including all obligate heterozygotes, had roughly half-normal acyltransferase activities (mean +/- S.D. = 0.39 +/- 0.06 mU/ml) when compared to 17 intrafamilial controls and spouses (mean +/- S.D. = 0.72 +/- 0.09 mU/ml) and 40 blood donors from Marburg/Lahn (mean +/- S.D. =0.76 +/- 0.1 mU/ml). Characterization of the heterozygotes did not reveal abnormalities in their plasma lipoproteins. LCAT deficiency and the beta-thalassaemia trait coexisting in this kindred segregated independently.
对一个患有卵磷脂胆固醇酰基转移酶缺乏症的撒丁岛家族的34名成员进行了研究。该家族延续了四代，两名患病兄弟姐妹的父母是血亲。家族中酰基转移酶缺乏基因的分离清楚地表明其遗传方式为常染色体隐性遗传。与17名家族内对照者和配偶（平均±标准差=0.72±0.09 mU/ml）以及40名来自马尔堡/拉恩的献血者（平均±标准差=0.76±0.1 mU/ml）相比，包括所有必然杂合子在内的13名家族成员的酰基转移酶活性大约只有正常水平的一半（平均±标准差=0.39±0.06 mU/ml）。对杂合子的特征分析未发现其血浆脂蛋白存在异常。该家族中同时存在的LCAT缺乏症和β地中海贫血性状独立分离。
