Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 307-311, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-239482
ABSTRACT
<p><b>OBJECTIVE</b>To explore the application of preimplantation genetic diagnosis (PGD) for infantile malignant osteopetrosis (IMO).</p><p><b>METHODS</b>For a family affected with IMO, PGD was provided using combined parental mutation detection and haplotype constructions with microsatellite markers spanning the TCIRG1 gene. Prenatal diagnosis was performed on the chorionic villus and amniocentesis samples by direct sequencing.</p><p><b>RESULTS</b>Prenatal diagnosis showed that the fetus by the third pregnancy has carried the parental mutations [c.242delC (p.Pro81Argfs*85) and c.1114C>T (p.Gln372*)], and the pregnancy was terminated. PGD was subsequently performed through mutations detection and haplotype analyses following whole genome amplification (WGA) of each of 13 cells. The results showed that 6 of the 13 embryos were unaffected, 3 were carriers and 4 were affected. Well developed unaffected/carrier embryos were selected and transferred into the uterus. A single pregnancy was confirmed. Subsequently pre- and post-natal diagnoses have confirmed development of a healthy child.</p><p><b>CONCLUSION</b>The study demonstrated the advantage of PGD over prenatal diagnosis when natural pregnancies have repeatedly produced IMO children/fetuses.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteopetrose
/
Linhagem
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Fertilização in vitro
/
Embriologia
/
Mutação Puntual
/
Repetições de Microssatélites
/
Diagnóstico Pré-Implantação
/
ATPases Vacuolares Próton-Translocadoras
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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