Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 83-85, 2004.
Artículo
en Chino
| WPRIM
| ID: wpr-329391
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the normal range of (CAG)n in spinocerebellar ataxia type 1 (SCA1) gene and spinocerebellar ataxia type 3 (SCA3/MJD) gene in 110 normal subjects of Han population in Northeastern China, to assess the genotypes for clinically diagnosed spinocerebellar ataxia(SCA) individuals including 25 patients from 8 families and 6 sporadic patients, and to make presymptomatic and prenatal diagnosis.</p><p><b>METHODS</b>DNA fragments from the normal subjects and the patients were detected by fluorescence-PCR. Homozygosities were selected for DNA sequencing.</p><p><b>RESULTS</b>The normal ranges of (CAG)n of SCA1 and SCA3/MJD were 20-39 and 14-38 repeats respectively, SCA1 was found mostly to be 26 and 27 repeats, allele frequency 34.09% and 20.91%; heterozygosity was 84.55%, SCA3/MJD was found mostly to be 14 repeats, allele frequency 39.55%, heterozygosity was 78.18%.(CAG)(68) of SCA3/MJD gene of one affected individual had been found in a family but no CAG mutative expansion in related members was observed.</p><p><b>CONCLUSION</b>The normal ranges of CAG repeats vary with areas and races. SCAs genotyping is the first choice in presymptomatic and prenatal diagnosis.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Proteínas Represoras
/
ADN
/
Proteínas Nucleares
/
Química
/
China
/
Salud de la Familia
/
Análisis de Secuencia de ADN
/
Enfermedad de Machado-Joseph
/
Repeticiones de Trinucleótidos
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Artículo
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