https://scholars.lib.ntu.edu.tw/handle/123456789/146036
標題: | Identification of a New Ca Dinucleotide Repeat in the Human Factor Viii Gene | 作者: | LIN, SHU-RUNG LIN, SHU-WHA HSU, YA-CHU SHEN, MING-CHING |
關鍵字: | FACTOR VIII;HEMOPHILIA A;GENE MUTATION;GENETIC CONSELING | 公開日期: | 2000 | 卷: | v.111 | 期: | n.4 | 起(迄)頁: | 1256-1259 | 來源出版物: | BRITISH JOURNAL OF HAEMATOLOGY | 摘要: | We describe the identification of a new CA dinucleotide repeat marker for the diagnosis of haemophilia A carriers. The marker (CA-6) is present in intron 6 as a single copy 5 kb upstream of exon 7. Of 195 and 118 X chromosomes from normal individuals and haemophilia A patients, respectively, we observed three alleles of CA-6 with 12-14 repetitions [( CA)(12-14)]. The frequencies were 0.5% and 0% for (CA)(12), 99% and 95.8% for (CA)(13), and 0.5% and 4.2% for (CA)(14) in normals and patients respectively. We conclude that the low polymorphism of the CA-6 marker renders it less useful for the diagnosis of Chinese haemophilia A carriers . |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/86175 |
顯示於: | 醫學檢驗暨生物技術學系 |
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