Studies on mutations of exon 11 and 12 in phenylalaninase gene of phenylketonuria patients in Xinjiang
- VernacularTitle:新疆苯丙酮尿症患者苯丙氨酸羟化酶基因第11、12外显子点突变分析
- Author:
Wuzhong YU
;
Donghui QIU
;
Fang SONG
- Publication Type:Journal Article
- Keywords:
phenylketonurias;
phenylalanine hydroxylase;
mutation;
exons
- From:
Medical Journal of Chinese People's Liberation Army
1981;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase(PAH)gene of the patients with phenylketonuria(PKU)in Xinjiang.Methods PCR/SSCP and gene sequencing were used in present study.Results Five mutations were identified from 74 chromosomes of 37 patients.Among them two mutations were detected from exon 11 including nonsense mutation Y356X and splice site mutation V399V,and three mutations were detected from exon 12 including R413P,R408W and A434D,all which were missense mutation.The frequency of the five mutations were 5.4%,5.4%,4.1%,1.4%,1.4% and 1.4%,respectively.The allelomorphic frequency of exon 11 and 12 were 10.8% and 6.8%,respectively.Among the five mutations,R413P is common in Japan,Y356X and V399V are centered in north China,and R408W is the most often mutation in Europe and America.Conclusion Xinjiang Uygur Autonomous Region is situated on northwest China,contiguous to other countries of central Asia,and is such an area differed from other areas of China,and distributed special PAH gene mutation in PKU patients.
