Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: A familiar case with recombination event

Dora Janeth Fonseca Mendoza, Heidi Mateus Arbeláez, Silva Aldana Claudia Tamar

Resultado de la investigación: Contribución a RevistaArtículo

Resumen

Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterized by muscular weakness. It is caused by mutations on the dystrophin gen. Loss of heterozygosity allows us to identify female carriers of deletions on the dystrophin gen. Objective: identify female carriers in a family with a patient affected by DMD. Material and methods: nine family members and the affected child were analyzed using DNA extraction and posterior amplification of ten STRs on the dystrophin gen. Haplotypes were constructed and the carrier status determined in two of the six women analyzed due to loss of heterozygosity in three STRs. Additionally, we observed a recombination event. Conclusions: loss of heterozygosity allows us to establish with a certainty of 100% the carrier status of females with deletions on the dystrophin gen. By the construction of haplotypes we were able to identify the X chromosome with the deletion in two of the six women analyzed. We also determined a recombination event in one of the sisters of the affected child. These are described with a high frequency (12%). A possible origin for the mutation is a gonadal mosaicism in the maternal grandfather or in the mother of the affected child in a very early stage in embryogensis. This can be concluded using the analysis of haplotypes.
Idioma originalEnglish (US)
Páginas (desde-hasta)83-90
Número de páginas8
PublicaciónRevista Ciencias de la Salud
EstadoPublished - jul 20 2012

Huella dactilar

Dystrophin
Duchenne Muscular Dystrophy
Loss of Heterozygosity
Genetic Recombination
Haplotypes
event
Mothers
Chromosome Deletion
Mutation
Mosaicism
family member
Muscle Weakness
X Chromosome
Disease
Siblings
DNA

Citar esto

@article{e0933d8fef154aab8dc1a8387d7a9c10,
title = "Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: A familiar case with recombination event",
abstract = "Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterized by muscular weakness. It is caused by mutations on the dystrophin gen. Loss of heterozygosity allows us to identify female carriers of deletions on the dystrophin gen. Objective: identify female carriers in a family with a patient affected by DMD. Material and methods: nine family members and the affected child were analyzed using DNA extraction and posterior amplification of ten STRs on the dystrophin gen. Haplotypes were constructed and the carrier status determined in two of the six women analyzed due to loss of heterozygosity in three STRs. Additionally, we observed a recombination event. Conclusions: loss of heterozygosity allows us to establish with a certainty of 100{\%} the carrier status of females with deletions on the dystrophin gen. By the construction of haplotypes we were able to identify the X chromosome with the deletion in two of the six women analyzed. We also determined a recombination event in one of the sisters of the affected child. These are described with a high frequency (12{\%}). A possible origin for the mutation is a gonadal mosaicism in the maternal grandfather or in the mother of the affected child in a very early stage in embryogensis. This can be concluded using the analysis of haplotypes.",
author = "{Fonseca Mendoza}, {Dora Janeth} and Arbel{\'a}ez, {Heidi Mateus} and {Claudia Tamar}, {Silva Aldana}",
year = "2012",
month = "7",
day = "20",
language = "English (US)",
pages = "83--90",
journal = "Revista Ciencias de la Salud",
issn = "1692-7273",
publisher = "Universidad del Rosario",

}

Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: A familiar case with recombination event. / Fonseca Mendoza, Dora Janeth; Arbeláez, Heidi Mateus; Claudia Tamar, Silva Aldana.

En: Revista Ciencias de la Salud, 20.07.2012, p. 83-90.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: A familiar case with recombination event

AU - Fonseca Mendoza, Dora Janeth

AU - Arbeláez, Heidi Mateus

AU - Claudia Tamar, Silva Aldana

PY - 2012/7/20

Y1 - 2012/7/20

N2 - Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterized by muscular weakness. It is caused by mutations on the dystrophin gen. Loss of heterozygosity allows us to identify female carriers of deletions on the dystrophin gen. Objective: identify female carriers in a family with a patient affected by DMD. Material and methods: nine family members and the affected child were analyzed using DNA extraction and posterior amplification of ten STRs on the dystrophin gen. Haplotypes were constructed and the carrier status determined in two of the six women analyzed due to loss of heterozygosity in three STRs. Additionally, we observed a recombination event. Conclusions: loss of heterozygosity allows us to establish with a certainty of 100% the carrier status of females with deletions on the dystrophin gen. By the construction of haplotypes we were able to identify the X chromosome with the deletion in two of the six women analyzed. We also determined a recombination event in one of the sisters of the affected child. These are described with a high frequency (12%). A possible origin for the mutation is a gonadal mosaicism in the maternal grandfather or in the mother of the affected child in a very early stage in embryogensis. This can be concluded using the analysis of haplotypes.

AB - Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterized by muscular weakness. It is caused by mutations on the dystrophin gen. Loss of heterozygosity allows us to identify female carriers of deletions on the dystrophin gen. Objective: identify female carriers in a family with a patient affected by DMD. Material and methods: nine family members and the affected child were analyzed using DNA extraction and posterior amplification of ten STRs on the dystrophin gen. Haplotypes were constructed and the carrier status determined in two of the six women analyzed due to loss of heterozygosity in three STRs. Additionally, we observed a recombination event. Conclusions: loss of heterozygosity allows us to establish with a certainty of 100% the carrier status of females with deletions on the dystrophin gen. By the construction of haplotypes we were able to identify the X chromosome with the deletion in two of the six women analyzed. We also determined a recombination event in one of the sisters of the affected child. These are described with a high frequency (12%). A possible origin for the mutation is a gonadal mosaicism in the maternal grandfather or in the mother of the affected child in a very early stage in embryogensis. This can be concluded using the analysis of haplotypes.

M3 - Article

SP - 83

EP - 90

JO - Revista Ciencias de la Salud

JF - Revista Ciencias de la Salud

SN - 1692-7273

ER -