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Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients
Author(s) -
Qiu W. J.,
Gu X. F.,
Ye J.,
Han L.Sh.,
Zhang Y. F.,
Liu X. Q.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000009992.78840.77
Subject(s) - linkage disequilibrium , genetics , glycogen storage disease , biology , polymorphism (computer science) , gene , haplotype , genotype , glycogen , endocrinology
Summary: Sequence analysis of 26 patients from Mainland China with glycogen storage disease type Ia revealed a high frequency of two mutations in the glucose‐6‐phosphatase gene. These mutations, 727G>T and R83H, were also found to be in linkage disequilibrium with a polymorphism at position 1176. These findings have implications for carrier detection and prenatal diagnosis of this disease in the Chinese population.