title: A compound heterozygote in the NADH-cytochrome b5 reductase gene from a Chinese patient with hereditary methemoglobinemia type I.
abstract: 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 (CGG-->CAG)/Cys203Tyr (TGC-->TAC) was found in the b5R gene from the patient, and a CGG-->CAG mutant allele occurred in a chromosome inherited from his mother, while TGC-->TAC 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.
authors.affiliation: Center for Medical Laboratory, Fuzhou General Hospital, People's Republic of China. yctang@pub2.fz.fj.cn
authors.forename: Y S
authors.initials: YS
authors.lastname: Wu
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: C H
authors.initials: CH
authors.lastname: Huang
authors.forename: F H
authors.initials: FH
authors.lastname: Lan
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D003579:Cytochrome Reductases / Q000235:genetics*; D042966:Cytochrome-B(5) Reductase; D004252:DNA Mutational Analysis; D005192:Family Health; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000145:classification / Q000235:genetics*; D017354:Point Mutation
chemical_list: D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase