Thalassemia
Hattori, Y.
Rinsho Byori. Japanese Journal of Clinical Pathology 43(8): 776-780
1995
ISSN/ISBN: 0047-1860 PMID: 7474435 Document Number: 441725
Gene analysis of thalassemia started more than 10 years ago. The analysis has been considerably facilitated by the advent of PCR. There are over 20 kinds of mutations in Japanese beta-thalassemia known to date, among which 8 mutations comprise 75% of all families with beta-thalassemia. Several simplified methods are available for these "common" mutations. Here, are introduced two simple methods; amplification refractory mutation system(ARMS) and gap PCR for analyses of beta-thalassemia(one-point mutation) and alpha-thalassemia(large DNA deletion), respectively. These methods are easily applicable to routine DNA analysis.