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Hartnup病一家系基因突变研究

Analysis of mutations in the SLC6A19 gene in a Chinese family with Hartnup disease
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摘要 目的:研究一Hartnup病家系的氨基酸转运蛋白基因(SLC6A19)的突变。方法:提取Hartnup病患者及家族成员的基因组DNA,采用聚合酶链反应(PCR)扩增SLC6A19基因所有的外显子,并对PCR产物进行测序序列分析。结果:Hartnup病患者SLC6A19基因存在异常:第6外显子第850位碱基由鸟嘌呤变为腺嘌呤,使第284位氨基酸由甘氨酸(G)转变为精氨酸(R),即G284R错义突变。其弟与患者突变相同。其父母均为G284R突变杂合子。结论: 该Hartnup病家系由氨基酸转运蛋白基因(SLC6A19)的G284R错义突变所致。 Objective: To detect the mutation of amino acid lransporter (SLC6A19)gene in a family with Hartnup disease. Methods: The genomic DNA was extracted from the proband and her family members. All the encoding exons of SLC6AI9 were amplified by PCR. Mutation scanning was carried out via direct bi - directional DNA sequencing. Results: In the proband, there was a 850 G→A mutation located at codon 284(G284R) in exon 6 of SLC6A19 gene. The stone mutation was detected in her younger brother. The proband' s parents were heterozygote of G284R. Conclusion: The phenotype of Hartnup disease in the family is caused by missense mutation of G284R in SLC6A19 gene.
出处 《中国麻风皮肤病杂志》 2009年第12期877-879,共3页 China Journal of Leprosy and Skin Diseases
关键词 Hartnup病 突变 氨基酸转运蛋白基因 Hartnup disorder mutation amino acid transporter(SLC6A19)gene
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参考文献7

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二级参考文献3

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