Detection of a novel large deletion causing α-thalassemia in South China.
Exp Mol Pathol
; 95(1): 68-73, 2013 Aug.
Article
en En
| MEDLINE
| ID: mdl-23726795
ABSTRACT
α-Thalassemia is an inherited autosomal recessive disorder. It is one of the most common monogenic abnormalities known in the world and is prevalent in tropical and subtropical regions. α-Thalassemia is more frequently caused by deletional type than non-deletional type. Recently, we identified a novel large deletional type of α-thalassemia named --(FZ)/αα from a family in South China. Multiplex ligation-dependent probe amplification was used for diagnosing the carrier and prenatal diagnosing for a fetus. Real-time PCR was employed for characterizing the deletion breakpoints and the deletional segment was determined as 300 kb in length extending from the telomere to AXIN1 gene on the short arm of chromosome 16. The carriers in the family members were detected by real-time PCR using designed primers.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 16
/
Eliminación de Secuencia
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Talasemia alfa
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Reacción en Cadena de la Polimerasa Multiplex
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
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Male
/
Pregnancy
País/Región como asunto:
Asia
Idioma:
En
Revista:
Exp Mol Pathol
Año:
2013
Tipo del documento:
Article
País de afiliación:
China