α-L-艾杜糖醛酸酶（IDUA）基因外显子I中两个限制性片段长度多态性的聚合酶链反应检测
PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
作者信息
Scott H S, Litjens T, Hopwood J J, Morris C P
机构信息
Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
出版信息
Hum Genet. 1992 Nov;90(3):327. doi: 10.1007/BF00220095.
Two polymorphisms were detected within exon I of the alpha-L-iduronidase (IDUA) gene both of which create restriction endonuclease sites and one of which changes an amino acid. The polymorphisms may be detected by digesting the same 245-bp polymerase chain reaction product. The polymorphisms can be used diagnostically in families with IDUA deficiency (mucopolysaccharidosis type I) and Huntington disease, which is closely linked to the IDUA locus.
在α-L-艾杜糖醛酸酶（IDUA）基因的外显子I中检测到两种多态性，这两种多态性均产生限制性内切酶位点，其中一种会改变氨基酸。通过消化相同的245 bp聚合酶链反应产物可检测到这些多态性。这些多态性可用于对患有IDUA缺乏症（I型黏多糖贮积症）和与IDUA基因座紧密连锁的亨廷顿病的家族进行诊断。
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