Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 183-186, 2009.
Artículo
en Chino
| WPRIM
| ID: wpr-287428
ABSTRACT
<p><b>OBJECTIVE</b>To determine the gene mutation spectrum of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency (PTPSD) in Mainland China.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenilalanina Hidroxilasa
/
Pterinas
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Esteroide 21-Hidroxilasa
/
China
/
Reacción en Cadena de la Polimerasa
/
Pueblo Asiatico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2009
Tipo del documento:
Artículo
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