Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2006
[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome].
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Guo Yi-bin, Lin Qun-di, Du Chuan-shu
Аннотация
OBJECTIVE: To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.
METHODS: Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene. DNA sequencing was applied to analyze the mutation detected by PCR-DHPLC.
RESULTS: Abnormal peaks were found by PCR-DHPLC. A new frame-mutation (1569+TT) in exon 9 of IDS gene was identified by DNA sequencing. Two "T"q inserted in position 1569 base pair (1569+TT) caused a substitution of codon 482 (TTA, leucine) to 482 (TTT, phenylalanine). The "TT" insertion results in the decrease of amino acids from 550 to 482. The patient is a hemizygote and his mother is a heterozygote.
CONCLUSION: A new frame-shift mutation of IDS gene is found to report. The mutation (1569+TT) results in 68 amino acids lost. Probably it causes the enzyme activity seriously dropped down and being pathologically the basis of disease.
METHODS: Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene. DNA sequencing was applied to analyze the mutation detected by PCR-DHPLC.
RESULTS: Abnormal peaks were found by PCR-DHPLC. A new frame-mutation (1569+TT) in exon 9 of IDS gene was identified by DNA sequencing. Two "T"q inserted in position 1569 base pair (1569+TT) caused a substitution of codon 482 (TTA, leucine) to 482 (TTT, phenylalanine). The "TT" insertion results in the decrease of amino acids from 550 to 482. The patient is a hemizygote and his mother is a heterozygote.
CONCLUSION: A new frame-shift mutation of IDS gene is found to report. The mutation (1569+TT) results in 68 amino acids lost. Probably it causes the enzyme activity seriously dropped down and being pathologically the basis of disease.