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[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.


RESULTS AND CONCLUSION
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.