Mutational Analysis of the a-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms

Khalda Amr; Ahmed Katoury; Mohamed Abdel-HamidRanda BassiouniMona IbrahimEkram Fateen

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Mutational Analysis of the a-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms

机译：a-L-Iduronidase基因突变分析三个埃及家庭:三的识别小说小说突变和五个多态性

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Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder that results from a deficiency in α-Liduronidase (IDUA), which is involved in the degradation of dermatan and heparan sulfates. MPS I has three clinical phenotypes, ranging from the severe Hurler form to the milder Scheie phenotype. In this study, mutational analysis of the IDUA gene in three unrelated Egyptian families with Hurler phenotype was performed by sequencing the IDUA exons and exon-intron boundaries. Three novel mutations (c.854de1C in exon 6, T141S in exon 4, and IVS2+6c>t) and the previously reported G51D in exon 1 were detected. In addition, nine sequence variants, including five previously unreported polymorphisms (N73H, N297N, R363S, IVS10 (3025) g>t, and IVS11 (3318) c>a), were identified. This is the first report of IDUA mutations in Egyptian patients with MPS I. Our study showed a heterogeneous pattern of mutations and polymorphisms among Egyptian patients.

机译：我黏多糖病类型(MPS)是一个常染色体隐性障碍所导致的缺乏α-Liduronidase (IDUA)参与dermatan和退化乙酰肝素硫酸盐。表型,从严重的投手形式温和的Scheie表型。三个IDUA基因突变分析埃及有投手表现型的家庭无关是由IDUA外显子和测序exon-intron边界。(外显子6 c.854de1C T141S外显子4IVS2 + 6 c > t)和之前报道G51D外显子1被检测到。变异,包括5个先前报道(N73H snps, N297N、R363S IVS10 3025)g > t, IVS11 (3318) c >),是确定的。是第一个报告IDUA突变在埃及吗议员。我们的研究显示患者异构的突变和模式多态性在埃及的病人。

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《Genetic testing and molecular biomarkers》 |2009年第6期|761-764|共4页
作者
Khalda Amr; Ahmed Katoury; Mohamed Abdel-HamidRanda BassiouniMona IbrahimEkram Fateen;
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作者单位

Departments of Clinical Genetics,National Research Centre, Cairo, Egypt;

Departments of Medical Molecular Genetics,National Research Centre, Cairo, Egypt;

Departments of Biochemical Genetics,National Research Centre, Cairo, Egypt;

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正文语种英语
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关键词
Authentication; IDUA gene; heparanMutationDermatan SulfateExonsMucopolysaccharidosis IEgyptianpolymorphismmutational analysis;

机译：IEgyptianpolymorphismmutational分析;

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Mutational Analysis of the a-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms

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