Smolin L A, Clark K F, Schneider J A
Am J Hum Genet. 1987 Aug;41(2):266-75.
Heterozygotes for the autosomal recessive disease cystinosis are currently detected by measuring the cystine content of mixed-leukocyte preparations. The present study was designed to reassess the accuracy of this method and to determine whether measuring the cystine content of purified polymorphonuclear leukocytes would improve heterozygote detection. Blood samples were obtained from 29 obligate heterozygotes for nephropathic cystinosis, one obligate heterozygote for benign cystinosis, and 18 individuals presumed to be normal. When the cystine content of mixed-leukocyte preparations was measured, three heterozygote values overlapped the normal range. When polymorphonuclear-leukocyte cystine content was measured, no heterozygote values were within the normal range. Measurement of the cystine content of purified preparations of polymorphonuclear leukocytes affords a simple method that improves the sensitivity of heterozygote detection for cystinosis.
目前，常染色体隐性疾病胱氨酸病的杂合子是通过测量混合白细胞制剂中的胱氨酸含量来检测的。本研究旨在重新评估该方法的准确性，并确定测量纯化多形核白细胞中的胱氨酸含量是否会提高杂合子检测率。从29名肾病性胱氨酸病的必然杂合子、1名良性胱氨酸病的必然杂合子以及18名推测为正常的个体中采集了血样。当测量混合白细胞制剂中的胱氨酸含量时，有三个杂合子值与正常范围重叠。当测量多形核白细胞中的胱氨酸含量时，没有杂合子值在正常范围内。测量纯化的多形核白细胞制剂中的胱氨酸含量提供了一种简单的方法，可提高胱氨酸病杂合子检测的灵敏度。
