A compound heterozygote in the NADH-cytochrome b5 reductase gene from a Chinese patient with hereditary methemoglobinemia type I
Wu, Y.S.; Wang, Y.; Huang, C.H.; Lan, F.H.; Zhu, Z.Y.
International Journal of Hematology 72(1): 34-36
2000
ISSN/ISBN: 0925-5710 PMID: 10979206 Document Number: 518275
To elucidate the mutation in the nicotinamide adenine dinucleotide-cytochrome b5 reductase (b5R) gene from a Chinese patient with hereditary methemoglobinemia type I, we analyzed the coding sequences of b5R cDNA from the patient and from normal subjects by direct sequencing the reverse transcriptase-polymerase chain reaction (RT-PCR) products. The PCR-amplified genomic DNA fragments of the b5R gene from the patient, his mother, and normal controls were analyzed by restriction enzymes MspI and RsaI. A compound heterozygote Arg57Gln (CGGfwdarwCAG)/Cys203Tyr (TGCfwdarwTAC) was found in the b5R gene from the patient, and a CGGfwdarwCAG mutant allele occurred in a chromosome inherited from his mother, while TGCfwdarwTAC occurred in a chromosome inherited from his father. In this report, we discuss a compound heterozygote first observed in the b5R gene from a patient with hereditary methemoglobinemia type I.