|Title:||Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia||Authors:||WANG, TSO-REN
|Issue Date:||1996||Journal Volume:||v.8||Journal Issue:||n.2||Start page/Pages:||178-179||Source:||HUMAN MUTATION||Abstract:||
Achondroplasia and hypochondroplasia are common types of dwarfism in the Chinese population (Hwu and Wang, 1991). Rcently, a mutation (G1138A) in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) gene was found in most of the cases of achondroplasia (Shiang et al., 1994) . To see if this mutation were also prevalent in Chinese patients, this report discusses cases of achnodroplasia and hypochondroplasia examined by both SfcI polymorphism and direct sequencing. The results showed that amplified DNA from all seven cases of achondroplasia could be partially cleaved by SFcI ( all were heterozygotes ). In contrast, DNA from either parents of achondroplasia, two cases of hypochondroplasia, or normal controls could not be cleaved (Fig. 1). Direct sequencing of DNA from one achondroplasia patient showed the presence of both C and T ( sequenced from the reversed direction) at position 1138 ( data not shown). These results demonstrated that all achnodroplasia patients tested in the study have the same mutation as previously reported; therefore, there may be no racial difference. Two patients with hypochondroplasia, a disease that maps to the same locus as achondroplasia (Le Merrer et al., 1994), do not have the G1138A mutation in this study. In view of the uniformity of both phenotype and mutation in achondroplasia, the mutation of hypochondroplasia could be different.
|Appears in Collections:||醫學系|
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