Bittles A H, Carson N A
J Med Genet. 1973 Jun;10(2):120-1. doi: 10.1136/jmg.10.2.120.
Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mother, within the normal range in the father, and at an intermediate level consistent with heterozygosity in the infant. The activity present in the amnion fibroblasts was similar to that found in the cell line cultured from the infant's skin biopsy.
对一位患有同型胱氨酸尿症的母亲及其丈夫和新生儿的皮肤成纤维细胞中的胱硫醚合酶活性进行了研究。还对取自妊娠16周羊水的成纤维细胞系进行了酶学研究。母亲体内的酶活性非常低，父亲体内的酶活性在正常范围内，婴儿体内的酶活性处于与杂合子相符的中间水平。羊膜成纤维细胞中的活性与从婴儿皮肤活检培养的细胞系中的活性相似。
