Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy

Myron Miller, C. Boehm, M. Cotton, Haig Kazazian

Research output: Contribution to journalArticle

Abstract

RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families.

Original languageEnglish (US)
Pages (from-to)473-476
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume44
Issue number4
DOIs
StatePublished - 1992
Externally publishedYes

Fingerprint

Duchenne Muscular Dystrophy
Restriction Fragment Length Polymorphisms
Dystrophin
Genotype
Genes
Polyacrylamide Gel Electrophoresis
Alleles
Polymerase Chain Reaction
N(4)-chloroacetylcytosine arabinoside

Keywords

  • Becker muscular dystrophy
  • CACA repeat
  • Duchenne muscular dystrophy
  • VNTR

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy. / Miller, Myron; Boehm, C.; Cotton, M.; Kazazian, Haig.

In: American Journal of Medical Genetics, Vol. 44, No. 4, 1992, p. 473-476.

Research output: Contribution to journalArticle

@article{0130803790a44754adae2412e34ec39d,
title = "Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy",
abstract = "RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50{\%} of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families.",
keywords = "Becker muscular dystrophy, CACA repeat, Duchenne muscular dystrophy, VNTR",
author = "Myron Miller and C. Boehm and M. Cotton and Haig Kazazian",
year = "1992",
doi = "10.1002/ajmg.1320440417",
language = "English (US)",
volume = "44",
pages = "473--476",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy

AU - Miller, Myron

AU - Boehm, C.

AU - Cotton, M.

AU - Kazazian, Haig

PY - 1992

Y1 - 1992

N2 - RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families.

AB - RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families.

KW - Becker muscular dystrophy

KW - CACA repeat

KW - Duchenne muscular dystrophy

KW - VNTR

UR - http://www.scopus.com/inward/record.url?scp=0026640554&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026640554&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320440417

DO - 10.1002/ajmg.1320440417

M3 - Article

VL - 44

SP - 473

EP - 476

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -