Identification of Duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR

Ana Claudia Velázquez-Wong, César Hernández-Huerta, Areli Márquez-Calixto, Fidel Omar Hernández-Aguilar, Maricela Rodríguez-Cruz, Fabio Salamanca-Gómez, Ramón Coral-Vázquez

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by mutations in the dystrophin DMD gene located at Xp21.1 region. Up to 65% of the patients present dystrophin gene deletions. Mothers of DMD patients have a two-thirds chance of carrying a dystrophin mutation. The female carrier will transmit the disease gene to half of her sons and half of her daughters. As the recurrence risk for the disease is extremely high, it is very important to detect carrier status among female relatives of the patients to bring an adequate genetic counseling. In this work, results from two methods to identify female carriers are presented. One method is a multicolor fluorescence in situ hybridization (FISH) assay, and the other is reverse transcriptase-polymerase chain reaction (RT-PCR). We showed that FISH is an efficient, sensitive method that brings confident results to detect DMD female carriers as compared to RT-PCR. © Copyright, Mary Ann Liebert, Inc. 2008.
Original languageAmerican English
Pages (from-to)221-223
Number of pages198
JournalGenetic Testing
DOIs
StatePublished - 1 Jun 2008
Externally publishedYes

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Duchenne Muscular Dystrophy
Reverse Transcriptase Polymerase Chain Reaction
Fluorescence In Situ Hybridization
Dystrophin
Nuclear Family
Mutation
Genetic Counseling
Gene Deletion
Genes
Mothers
Recurrence

Cite this

Velázquez-Wong, A. C., Hernández-Huerta, C., Márquez-Calixto, A., Hernández-Aguilar, F. O., Rodríguez-Cruz, M., Salamanca-Gómez, F., & Coral-Vázquez, R. (2008). Identification of Duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR. Genetic Testing, 221-223. https://doi.org/10.1089/gte.2007.0081
Velázquez-Wong, Ana Claudia ; Hernández-Huerta, César ; Márquez-Calixto, Areli ; Hernández-Aguilar, Fidel Omar ; Rodríguez-Cruz, Maricela ; Salamanca-Gómez, Fabio ; Coral-Vázquez, Ramón. / Identification of Duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR. In: Genetic Testing. 2008 ; pp. 221-223.
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abstract = "Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by mutations in the dystrophin DMD gene located at Xp21.1 region. Up to 65{\%} of the patients present dystrophin gene deletions. Mothers of DMD patients have a two-thirds chance of carrying a dystrophin mutation. The female carrier will transmit the disease gene to half of her sons and half of her daughters. As the recurrence risk for the disease is extremely high, it is very important to detect carrier status among female relatives of the patients to bring an adequate genetic counseling. In this work, results from two methods to identify female carriers are presented. One method is a multicolor fluorescence in situ hybridization (FISH) assay, and the other is reverse transcriptase-polymerase chain reaction (RT-PCR). We showed that FISH is an efficient, sensitive method that brings confident results to detect DMD female carriers as compared to RT-PCR. {\circledC} Copyright, Mary Ann Liebert, Inc. 2008.",
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Velázquez-Wong, AC, Hernández-Huerta, C, Márquez-Calixto, A, Hernández-Aguilar, FO, Rodríguez-Cruz, M, Salamanca-Gómez, F & Coral-Vázquez, R 2008, 'Identification of Duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR', Genetic Testing, pp. 221-223. https://doi.org/10.1089/gte.2007.0081

Identification of Duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR. / Velázquez-Wong, Ana Claudia; Hernández-Huerta, César; Márquez-Calixto, Areli; Hernández-Aguilar, Fidel Omar; Rodríguez-Cruz, Maricela; Salamanca-Gómez, Fabio; Coral-Vázquez, Ramón.

In: Genetic Testing, 01.06.2008, p. 221-223.

Research output: Contribution to journalArticle

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AU - Hernández-Huerta, César

AU - Márquez-Calixto, Areli

AU - Hernández-Aguilar, Fidel Omar

AU - Rodríguez-Cruz, Maricela

AU - Salamanca-Gómez, Fabio

AU - Coral-Vázquez, Ramón

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AB - Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by mutations in the dystrophin DMD gene located at Xp21.1 region. Up to 65% of the patients present dystrophin gene deletions. Mothers of DMD patients have a two-thirds chance of carrying a dystrophin mutation. The female carrier will transmit the disease gene to half of her sons and half of her daughters. As the recurrence risk for the disease is extremely high, it is very important to detect carrier status among female relatives of the patients to bring an adequate genetic counseling. In this work, results from two methods to identify female carriers are presented. One method is a multicolor fluorescence in situ hybridization (FISH) assay, and the other is reverse transcriptase-polymerase chain reaction (RT-PCR). We showed that FISH is an efficient, sensitive method that brings confident results to detect DMD female carriers as compared to RT-PCR. © Copyright, Mary Ann Liebert, Inc. 2008.

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Velázquez-Wong AC, Hernández-Huerta C, Márquez-Calixto A, Hernández-Aguilar FO, Rodríguez-Cruz M, Salamanca-Gómez F et al. Identification of Duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR. Genetic Testing. 2008 Jun 1;221-223. https://doi.org/10.1089/gte.2007.0081