[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].
OBJECTIVE
To determine the gene mutation spectrum of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency (PTPSD) in Mainland China.


METHODS
The 6-pyruvoyltetrahydrobiopterin synthesis gene lz(PTS)lz was analyzed in 55 PTPSD patients by using PCR-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. The relationship between the genotype and phenotype was analyzed.


RESULTS
Eighteen mutations were identified and the detection rate of gene mutation was 95.28%. Four hot-spot mutations, namely P87S (40.57%), N52S(13.21%), D96N(12.26%) and IVS1nt-291A to G(10.38%) were found in this study, and the first three were associated with severe phenotype. The P87L was reported firstly in Chinese patients, and the Q13X, M80T, IVS4nt-2A to G, L93M and K131N were novel mutations.


CONCLUSIONS
The P87S, N52S, D96N and IVS1nt-291A to G mutations are the hot-spots mutations of the PTS gene in Chinese PTPSD patients. Using PCR-RFLP technique to screen the mutations in the PTS gene can increase the efficiency of gene diagnosis.
Gu
Mei-qing
MQ
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Jiaotong University, Shanghai, People's Republic of China.
Ye
Jun
J
Qiu
Wen-juan
WJ
Han
Lian-shu
LS
Zhang
Ya-feng
YF
Gu
Xue-fan
XF
D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011622:Pterins / Q000378:metabolism*; D013255:Steroid 21-Hydroxylase / Q000235:genetics* / Q000378:metabolism
D011622:Pterins; C045652:dyspropterin; D013255:Steroid 21-Hydroxylase; D010651:Phenylalanine Hydroxylase