A CA repeat in the first intron of the CFTR gene

Danielle S. Moulin; Annabel N. Smith; Ann Harris

doi:10.1159/000154427

A CA repeat in the first intron of the CFTR gene

Danielle S. Moulin, Annabel N. Smith, Ann Harris^*

^*Corresponding author for this work

Pediatrics

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

7 Scopus citations

Abstract

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5’ to intron 6a and so will be a useful additional diagnostic marker.

Original language	English (US)
Pages (from-to)	295-297
Number of pages	3
Journal	Human Heredity
Volume	47
Issue number	5
DOIs	https://doi.org/10.1159/000154427
State	Published - Jan 1997

Keywords

CA repeat CFTR

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1159/000154427

Cite this

@article{c452f8824fa84309beffea66c5f6f40b,

title = "A CA repeat in the first intron of the CFTR gene",

abstract = "Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5{\textquoteright} to intron 6a and so will be a useful additional diagnostic marker.",

keywords = "CA repeat CFTR",

author = "Moulin, {Danielle S.} and Smith, {Annabel N.} and Ann Harris",

year = "1997",

month = jan,

doi = "10.1159/000154427",

language = "English (US)",

volume = "47",

pages = "295--297",

journal = "Human Heredity",

issn = "0001-5652",

publisher = "S. Karger AG",

number = "5",

}

TY - JOUR

T1 - A CA repeat in the first intron of the CFTR gene

AU - Moulin, Danielle S.

AU - Smith, Annabel N.

AU - Harris, Ann

PY - 1997/1

Y1 - 1997/1

N2 - Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5’ to intron 6a and so will be a useful additional diagnostic marker.

AB - Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5’ to intron 6a and so will be a useful additional diagnostic marker.

KW - CA repeat CFTR

UR - http://www.scopus.com/inward/record.url?scp=0030767382&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030767382&partnerID=8YFLogxK

U2 - 10.1159/000154427

DO - 10.1159/000154427

M3 - Article

C2 - 9358019

AN - SCOPUS:0030767382

SN - 0001-5652

VL - 47

SP - 295

EP - 297

JO - Human Heredity

JF - Human Heredity

IS - 5

ER -

A CA repeat in the first intron of the CFTR gene

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this