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: Y S Wu, Y Wang, C H Huang, F H Lan, Z Y Zhu
• Journal: International journal of hematology (Int J Hematol) Vol. 72 Issue 1 Pg. 34-6 (Jul 2000) ISSN: 0925-5710 [Print] Japan
• PMID: 10979206 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cytochrome Reductases
• Cytochrome-B(5) Reductase

Topics

• Adolescent
• Amino Acid Substitution
• Asian People (genetics)
• Cytochrome Reductases (genetics)
• Cytochrome-B(5) Reductase
• DNA Mutational Analysis
• Family Health
• Genetic Carrier Screening
• Humans
• Male
• Methemoglobinemia (classification, genetics)
• Point Mutation