[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.
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Jiaotong University, Shanghai, People's Republic of China.
Mei-qing
MQ
Gu
Jun
J
Ye
Wen-juan
WJ
Qiu
Lian-shu
LS
Han
Ya-feng
YF
Zhang
Xue-fan
XF
Gu
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