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家族性卵磷脂胆固醇酰基转移酶(LCAT)缺乏症杂合子的检测。

Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

作者信息

Frohlich J, Hon K, McLeod R

出版信息

Am J Hum Genet. 1982 Jan;34(1):65-72.

PMID:6805319
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685214/
Abstract

"Rocket" immunoelectrophoresis using specific anti-lecithin: cholesterol acyltransferase (LCAT) antiserum showed no immunoreactive protein in two patients with familial LCAT deficiency. Subnormal quantity of plasma LCAT was found in the maternal grandmother, the parents, and in two of four siblings of the patients (3.3-3.4 mg/l vs. 5.4 +/- 0.5 mg/l in 12 controls). The immunochemical quantitation of the enzyme correlated well (r = .93) with LCAT activity in an artificial substrate assay. These two methods allow detection of heterozygotes for LCAT deficiency.

摘要

使用特异性抗卵磷脂

胆固醇酰基转移酶(LCAT)抗血清进行的“火箭”免疫电泳显示,两名家族性LCAT缺乏症患者中未检测到免疫反应性蛋白。在患者的外祖母、父母以及四名兄弟姐妹中的两名中发现血浆LCAT含量低于正常水平(3.3 - 3.4毫克/升,而12名对照者为5.4±0.5毫克/升)。在人工底物测定中,该酶的免疫化学定量与LCAT活性具有良好的相关性(r = 0.93)。这两种方法能够检测出LCAT缺乏症的杂合子。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ea4/1685214/f99740a6a13e/ajhg00355-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ea4/1685214/6d144781c752/ajhg00355-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ea4/1685214/f99740a6a13e/ajhg00355-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ea4/1685214/6d144781c752/ajhg00355-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ea4/1685214/f99740a6a13e/ajhg00355-0072-a.jpg

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本文引用的文献

1
SOME PROPERTIES OF A CHOLESTEROL ESTERIFYING ENZYME IN HUMAN PLASMA.人血浆中胆固醇酯化酶的某些特性
Biochim Biophys Acta. 1964 Aug 26;89:266-76. doi: 10.1016/0926-6569(64)90215-9.
2
Influence of lecithin:cholesterol acyltransferase on cholesterol metabolism in hepatoma cells and hepatocytes.卵磷脂:胆固醇酰基转移酶对肝癌细胞和肝细胞中胆固醇代谢的影响。
Biochim Biophys Acta. 1980 Feb 22;617(2):318-34. doi: 10.1016/0005-2760(80)90174-5.
3
Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase.人血浆卵磷脂-胆固醇酰基转移酶的放射免疫测定
J Clin Invest. 1981 Jan;67(1):141-8. doi: 10.1172/JCI110006.
4
Substitution in vitro of lecithin-cholesterol acyltransferase. Analysis of changes in plasma lipoproteins.卵磷脂胆固醇酰基转移酶的体外替代。血浆脂蛋白变化分析。
Eur J Biochem. 1980;107(1):225-41. doi: 10.1111/j.1432-1033.1980.tb04643.x.
5
Determination of lecithin: cholesterol acyltransfer in human blood plasma.人血浆中卵磷脂:胆固醇酰基转移酶的测定
Scand J Clin Lab Invest. 1971 Feb;27(1):21-7. doi: 10.3109/00365517109080184.
6
Rocket immunoelectrophoresis.火箭免疫电泳
Scand J Immunol Suppl. 1973;1:37-46. doi: 10.1111/j.1365-3083.1973.tb03777.x.
7
Lipoproteins in LCAT-deficiency.卵磷脂胆固醇酰基转移酶缺乏症中的脂蛋白。
Humangenetik. 1972;16(4):295-306. doi: 10.1007/BF00283977.
8
Studies on enzymatic and molecular properties of lecithin:cholesterol acyltransferase.
Scand J Clin Lab Invest Suppl. 1974;137:29-34.
9
Phospholipid substrate specificity of purified human plasma lecithin:cholesterol acyltransferase.纯化的人血浆卵磷脂胆固醇酰基转移酶的磷脂底物特异性
Scand J Clin Lab Invest Suppl. 1974;137:15-7.
10
Purification and characterization of human plasma lecithin:cholesterol acyltransferase.
Biochemistry. 1976 Mar 9;15(5):1084-7. doi: 10.1021/bi00650a020.