伊朗半乳糖血症患者中1-磷酸半乳糖尿苷酰转移酶突变的首次研究。
The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
作者信息
Mirzajani F, Mirfakhraie R, Nabati F, Tabatabaei N Naghibzadeh, Talachian E, Houshmand M
机构信息
National Institute of Genetic Engineering and Biotechnology, Tehran, IR, Iran.
出版信息
Clin Biochem. 2006 Jul;39(7):697-9. doi: 10.1016/j.clinbiochem.2006.04.020.
OBJECTIVES
Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 2.7.7.10) gene.
DESIGN AND METHODS
In the present study, we report molecular analysis of 14 unrelated Iranian galactosemia children with reduced or without GALT activity using PCR-RFLP and SSCP-Sequencing methods.
RESULTS
Q188R mutation was the most observed mutation with the allelic frequency of 57.1%. The allelic frequencies for S135L, Y209S, A320T, and K285N were found to be 7.1%, 7.1%, 7.1%, and 3.57% respectively.
CONCLUSIONS
Our results show that galactosemia is a heterogeneous disorder at the molecular level among the Iranian population.
目的
经典型半乳糖血症（麦库西克编号230400）是一种常染色体隐性疾病，由半乳糖-1-磷酸尿苷酰转移酶（GALT；酶编号2.7.7.10）基因突变引起。
设计与方法
在本研究中，我们运用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）和单链构象多态性-测序（SSCP-测序）方法，对14名无亲缘关系的伊朗半乳糖血症患儿进行分子分析，这些患儿的GALT活性降低或缺失。
结果
Q188R突变是最常见的突变，等位基因频率为57.1%。S135L、Y209S、A320T和K285N的等位基因频率分别为7.1%、7.1%、7.1%和3.57%。
结论
我们的结果表明，在伊朗人群中，半乳糖血症在分子水平上是一种异质性疾病。
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