[Common mutation analysis for patients found in Tianjin area with glucose-6-phosphate dehydrogenase deficiency].
OBJECTIVE
To study the types of glucose-6-phosphate dehydrogenase (G6PD) gene mutation in North China and to find the relationship between the mutations and population emigrants.


METHODS
DNA samples from 22 unrelated patients(21 male and 1 female) with G6PD deficiency from Tianjin area in North China were studied for the three common mutations by using both mismatched primers mediated polymerase chain reaction/ restriction enzyme analysis and dideoxy fingerprinting methods.


RESULTS
Eight patients(8/22, 36.4%) were found to have the mutation R459L(1376G-->T), and seven patients (7/22, 31.8%) were found to have the mutation R463H (1388G-->A). In three of (3/7) other seven patients (7/22), H32R(95A-->G) were detected; one patient (1/3) was identified to have H32R (95A-->G) mutation.


CONCLUSIONS
The three common mutations in South China are also found in North China. However, most of the patients in Tianjin are also the later generations of Southern emigrants.
Song
L
L
Pediatric Research Institute, Tianjin Children's Hospital. Tianjin, 300074 P.R.China. TJETYY@public.TJUC.COM.CN
Li
P
P
Wang
X
X
Meng
Y
Y
Zhang
B
B
Wang
Q
Q
D044466:Asian People / Q000235:genetics*; D002681:China; D004641:Emigration and Immigration; D005260:Female; D005828:Genetics, Population; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation