Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 44-48, 2005.
Artículo
en Chino
| WPRIM
| ID: wpr-321163
ABSTRACT
<p><b>OBJECTIVE</b>To develop and evaluate a simple, fast and accurate prenatal diagnosis method for glycogen storage disease Ia (GSD Ia) in Chinese.</p><p><b>METHODS</b>This study involved 3 unrelated families. Genomic DNA samples were extracted from the blood of three GSD Ia patients and their parents, from the amniocytes of 3 fetuses and the blood of 2 newborns. By the way of restriction enzyme analysis, the screening for 727G-->T and R83H mutations of glucose-6-phosphatase gene was carried out in conjunction with 1176 nucleotide polymorphism linkage analysis so as to make the gene and prenatal diagnosis of 3 GSD Ia families. Direct DNA sequencing of the corresponding PCR products was used to confirm the unveiled mutations and 1176 nucleotide polymorphism.</p><p><b>RESULTS</b>Three probands were homozygotes for the 727G-->T mutation and their parents were heterozygotes for this mutation. The fetuses of family 1 and 3 were heterozygotes for the 727G-->T mutation, whereas the fetus of family 2 did not carry this mutation. The 1176 nucleotide polymorphisms of 3 fetuses were different from those of the corresponding probands. The prenatal diagnoses of family 1 and 2 were confirmed by the postnatal biochemical and molecular studies.</p><p><b>CONCLUSION</b>These findings suggest that the screening for 727G-->T and R83H mutations in conjunction with the 1176 polymorphism linkage analysis be a simple, fast and accurate method for gene and prenatal diagnosis of GSD Ia in Chinese.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Enfermedad del Almacenamiento de Glucógeno Tipo I
/
Reacción en Cadena de la Polimerasa
/
Salud de la Familia
/
Glucosa-6-Fosfatasa
/
Polimorfismo de Nucleótido Simple
/
Diagnóstico
/
Genética
/
Ligamiento Genético
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2005
Tipo del documento:
Artículo
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