The frequency in Japanese of genetic variants of 22 proteins III. Phosphoglucomutase-1, phosphoglucomutase-2, 6-phosphogluconate dehydrogenase, adenylate kinase, and adenosine deaminase

Five enzyme systems, PGM 1 , PGM 2 , ADA, 6-PGD and AK, were examined by electrophoresis in over 4000 samples from Hiroshima and Nagasaki for the frequencies of common and rare variants. In the PGM 1 , system, the PGM 2 1 allele and PGM 7 1 ; allele were found in polymorphic proportions. I n addition, five kinds of slow variants and three types of fast variants of PGM 1 were detected. The PGM 3 NGS 1 1 allele was found in five individuals from Nagasaki, but was not observed in samples from Hiroshima. There were no variants of PGM 2 . Three kinds of fast variants of 6-PGD were detected. NO variation in AK was observed. There were no rare variants of ADA. The 6-PGD c allele had a frequency of 0.084 in Hiroshima, and 0.093 in Nagasaki, and the ADA 2 allele frequencies of 0.025 in Hiroshima and 0.032 in Nagasaki.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65524/1/j.1469-1809.1977.tb01912.x.pd

α-thalassaemia

Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia