中國人胎兒的溶解體酵活性值及其臨床意義

Lysosomal Enzyme Activity of Cultured Fetal Cells in Chinese and Its Clinical Application

楊瑞成(Rei-Cheng Yang) ； 楊淑齡(Su-Lin Yang) ； 陳香文(Siang-Wen Chen) ； 金素花(Su-Hwa Jing) ； 許麗嬌(Lih-Jiau Sheu) ； 張素娟(Su-Chuan Chang) ； 黃意惠(Yi-Hui Huang) ； 李冬梅(Dong-Mei Lee) ； 趙美琴(Mei-Chyn Chao)

《The Kaohsiung Journal of Medical Sciences》 9卷12期 (1993/12) Pp. 668-675

https://doi.org/10.6452/KJMS.199312.0668

摘要

溶解體貯積症(LSD)為單一基因異常引起之代謝異常疾病且較被廣泛探討之一群遺傳性疾病。利用早期胎兒細胞檢體早期診斷可預防此類預後不良之罹病兒出生。本研究之目的即在建立中國人LSD的出生前診斷系統，並測定中國人羊水細胞及絨毛膜細胞之溶解體酵素之參考值，期能作為此類疾病早期診斷及處置之參考。檢體取自高雄醫學院附設醫院優生保健諮詢中心及羊水檢驗中心，經醫師研判需作染色體篩檢之產婦且證明染色體正常之羊水細胞70例及經絨毛膜取樣之絨毛細胞9例，經細胞培義後測定其酵素值。酵素值之則定採用帶4-methyumbelliferon(4-Mu)之人工基質，利用細胞內酵素活性。結果顯示，溶解體酵素活性值，在培養之羊水細胞，α-glucosidase 介於14-138，α-galactosidase介於8-133，α-mannosidase介於32-470，α-fucosidase介於101-1121，
β-galactosidase介於106-1321，β-glucosidase介於25-268，β-glucuronidase介介於11-279，Hexosaminidase A介於101-1193，而N-acetyl-glucosaminidase則介於886-6024 nmol/mg protein/hr；在絨毛膜培養細胞則分別是α-glucosidase介於22-355，α-galactosidase介於31-230，α-mannosidase介於47-250，
α-fucosidase介於35-218，β-galactosidase介於49-934，β-gluconsidase介於34-329 nmol/mg protein/hr。在吾等培養時間內，酵素活性並不與培養時間之長短或檢體抽取時之懷孕週數成一定相關，且與生後個體得來之細胞酵素活性值相近，可見溶解體酵素的合成，在早期即已經成熟而與胎體之成熟度無關，各時期取得的檢體均可以作早期診斷。

並列摘要

Lysosomal storage diseases (LSD) are caused by deficient activity of specific lysosomal enzymes. Early diagnosis and selective termination is still the trend of therapy. The purpose of this study was to establish an assay system and investigate the reference range of lysosomal enzyme activity of cultured fetal cells in the Chinese population. Seventy amniotic fluid and 9 chorionic villi samples were collected and cultured in this study. Enzyme activity assay was done by synthesized 4-Mu-binded substrates. The activity was expressed as nmol/mg protein/hour. In cultured amniotic cells, the results showed 14-138 of α-glucosidase, 8-133 of α-galactosidase, 32-470 of α-mannosidase, 101-1121 of α-fucosidase, 106-1321 of β-galactosidase, 15-268 of β-glucosidase, 11-279 of β-glucuronidase, 101-1193 of Hexosaminidase A, and 886-6204 of N-acetyl-α-glucosaminidase. In cultured chorionic villi samples, it showed 22-335 of α-glucosidase, 31-230 of α-galactosidase, 47-250 of α-mannosidase, 35-218 of α-fucosidase, 49-934 of β-galactosidase, 34-329, of β-glucuronidase, and 328-3412 of Hexosaminidase A. The enzyme activity was not correlated with the gestation age when sample was obtained. Furthermore, there was no statistical significance among the range of amniotic cells, chorionic villi samples, skin fibroblasts and peripheral leukocytes for each enzyme studied. It is suggested that the synthesis of lysosomal enzymes has been mature since the early fetal state, and the samples obtained as early as 8 weeks of gestation age can be used for early diagnosis of lysosomal storage diseases.

並列關鍵字

lysosomal enzyme ； amnitotic cell ； chorionic villi sample