Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families

D. Arenas; R. Coral; B. Cisneros; L. Penaloza; F. Salamanca; S. Kofman; R. Mercado; J. Mendez; C. Martinez; C. Montanez

Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families

D. Arenas, R. Coral, B. Cisneros, L. Penaloza, F. Salamanca, S. Kofman, R. Mercado, J. Mendez, C. Martinez, C. Montanez

Research output: Contribution to journal › Article › peer-review

Abstract

In order to improve carrier detection of Duchenne and pecker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family.

Original language	English
Pages (from-to)	151-156
Number of pages	6
Journal	Archives of Medical Research
Volume	27
Issue number	2
State	Published - 1996
Externally published	Yes

Keywords

Carrier detection
DMD
PCR

Cite this

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title = "Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families",

abstract = "In order to improve carrier detection of Duchenne and pecker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family.",

keywords = "Carrier detection, DMD, PCR",

author = "D. Arenas and R. Coral and B. Cisneros and L. Penaloza and F. Salamanca and S. Kofman and R. Mercado and J. Mendez and C. Martinez and C. Montanez",

year = "1996",

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journal = "Archives of Medical Research",

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TY - JOUR

T1 - Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families

AU - Arenas, D.

AU - Coral, R.

AU - Cisneros, B.

AU - Penaloza, L.

AU - Salamanca, F.

AU - Kofman, S.

AU - Mercado, R.

AU - Mendez, J.

AU - Martinez, C.

AU - Montanez, C.

PY - 1996

Y1 - 1996

N2 - In order to improve carrier detection of Duchenne and pecker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family.

AB - In order to improve carrier detection of Duchenne and pecker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family.

KW - Carrier detection

KW - DMD

KW - PCR

UR - http://www.scopus.com/inward/record.url?scp=0029890307&partnerID=8YFLogxK

M3 - Artículo

SN - 0188-0128

VL - 27

SP - 151

EP - 156

JO - Archives of Medical Research

JF - Archives of Medical Research

IS - 2

ER -

Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families

Abstract

Keywords

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