【摘 要】
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Background: Crigler-Najjar syndrome (CN-I) is a very rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations of UPD-glucuronosyl-transferase 1A1 gene (UGT1A1) on c
【机 构】
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Department of Medical Genetics;Capital Institute of Pediatrics,Beijing,China 100020
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
Background: Crigler-Najjar syndrome (CN-I) is a very rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations of UPD-glucuronosyl-transferase 1A1 gene (UGT1A1) on chromosome 2q37.X-linked ichthyosis (XLI) is an X-linked recessive skin disorder, affected in male, and caused by the mutations of STS gene located on Xp22.3.Methods: In this study, we reported a male patient who was referred for severe icterus and ichthyosis.The family members were analyzed by DNA real-time quantitative PCR and single nucleotide polymorphisms (SNPs) array analysis to confirm the genetic diseases of both CN-Iand X-linked recessive ichthyosis.
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