Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2004
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Zhang Chun-ya, Li Lu-yun, Liu Shang-feng, Fu Jun-jiang, Lu Guang-xiu
Аннотация
OBJECTIVE: To identify the mutations of iduronate-2-sulfatase (IDS) gene in mucopolysaccharidosis type II patients.
METHODS: PCR-SSCP analysis was applied to detect the common mutations in the exons 2, 3, 5, 7, 8, 9 in IDS-gene of the patient. DNA sequencing and PCR-RFLP were applied to analyze the mutation detected by PCR-SSCP.
RESULTS: A new mutation(1253G-->T) of exon 7 of the IDS gene was found by PCR-SSCP and DNA sequencing in the patient, The PCR-restriction enzyme digestion showed that enzyme digestion location appeared in the patient and his mother, which verified the results of sequencing analysis.
CONCLUSION: The mutation of patient with MPSII could be detected effectively and quickly by the applications of PCR-SSCP, DNA sequencing and PCR-restriction enzyme digestion analysis, and the new mutation thus detected is necessary for the prenatal diagnosis of the pedigree.
METHODS: PCR-SSCP analysis was applied to detect the common mutations in the exons 2, 3, 5, 7, 8, 9 in IDS-gene of the patient. DNA sequencing and PCR-RFLP were applied to analyze the mutation detected by PCR-SSCP.
RESULTS: A new mutation(1253G-->T) of exon 7 of the IDS gene was found by PCR-SSCP and DNA sequencing in the patient, The PCR-restriction enzyme digestion showed that enzyme digestion location appeared in the patient and his mother, which verified the results of sequencing analysis.
CONCLUSION: The mutation of patient with MPSII could be detected effectively and quickly by the applications of PCR-SSCP, DNA sequencing and PCR-restriction enzyme digestion analysis, and the new mutation thus detected is necessary for the prenatal diagnosis of the pedigree.