[A novel point mutation in NADH-cytochrome b5 reductase gene].
OBJECTIVE
To characterize the b5R gene mutation in a Chinese patient with recessive congenital methemoglobinemia type I (RCM I).


METHODS
Total RNA was extracted from the peripheral leukocytes of the patient and cDNA was synthesized by RT-PCR. The coding region of b5R cDNA (921 bp) was analysed by sequencing of the RT-PCR products.


CONCLUSIONS
A novel mutation of Cys203(TGC)-->Try(TAC) in exon 7 was identified, which was further confirmed by restriction enzyme analysis of the genomic DNA fragment.
Wang
Y
Y
Center for Medical Laboratory, Fuzhou General Hospital, Fuzhou 350025.
Wu
Y
Y
Yang
W
W
D000368:Aged; D003579:Cytochrome Reductases / Q000235:genetics*; D042966:Cytochrome-B(5) Reductase; D005091:Exons; D005260:Female; D006801:Humans; D008708:Methemoglobinemia / Q000235:genetics*; D017354:Point Mutation
D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase