[遗传性黏多糖贮积症的基因座鉴别]
[Locus differentiation of hereditary mucopolysaccharidoses].
作者信息
Odinokova O N, Lebedeva T V, Krasnopol'skaia K D, Freĭdin M I
出版信息
Vopr Med Khim. 1986 Mar-Apr;32(2):45-9.
Locus differentiation of hereditary mucopolysaccharidoses (MPS) was carried out using the methods of enzymodiagnosis and metabolic cooperation. MPS loci were differentiated in 66 patients from 58 families, examined in the Centre of Medical Genetics, as well as in 21 patient from 12 families, found in Uzbek and Turkmen populations. The following MPS types were detected: MPS I H, MPS I H/Sh, MPS II, MPS III A and B, MPSIV A and B, MPS VI. Among the patients examined MPC II was the most widespread type of the disease. Ethnic dissimilarity was noted in the MPS distribution over the USSR regions.
采用酶诊断和代谢协同方法对遗传性黏多糖贮积症（MPS）进行基因座鉴别。对医学遗传学中心检查的来自58个家庭的66例患者以及在乌兹别克和土库曼人群中发现的来自12个家庭的21例患者进行了MPS基因座鉴别。检测到以下MPS类型：MPS I H、MPS I H/Sh、MPS II、MPS III A和B、MPSIV A和B、MPS VI。在所检查的患者中，MPC II是最常见的疾病类型。注意到MPS在苏联各地区的分布存在种族差异。
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