Frequency of deletion 508 among Irish cystic fibrosis patients

M A De Arce; D Mulherin; P McWilliam; M Lawler; M X FitzGerald; P Humphries; Mark Lawler

Frequency of deletion 508 among Irish cystic fibrosis patients

M A De Arce, D Mulherin, P McWilliam, M Lawler, M X FitzGerald, P Humphries, Mark Lawler

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

Abstract

We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.

Original language	English
Pages (from-to)	403-4
Number of pages	2
Journal	Human genetics
Volume	85
Issue number	4
Publication status	Published - Sep 1990

Keywords

Chromosome Deletion
Cystic Fibrosis
Gene Frequency
Humans
Ireland
Polymerase Chain Reaction

Cite this

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title = "Frequency of deletion 508 among Irish cystic fibrosis patients",

abstract = "We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.",

keywords = "Chromosome Deletion, Cystic Fibrosis, Gene Frequency, Humans, Ireland, Polymerase Chain Reaction",

author = "{De Arce}, {M A} and D Mulherin and P McWilliam and M Lawler and FitzGerald, {M X} and P Humphries and Mark Lawler",

year = "1990",

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T1 - Frequency of deletion 508 among Irish cystic fibrosis patients

AU - De Arce, M A

AU - Mulherin, D

AU - McWilliam, P

AU - Lawler, M

AU - FitzGerald, M X

AU - Humphries, P

AU - Lawler, Mark

PY - 1990/9

Y1 - 1990/9

N2 - We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.

AB - We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.

KW - Chromosome Deletion

KW - Cystic Fibrosis

KW - Gene Frequency

KW - Humans

KW - Ireland

KW - Polymerase Chain Reaction

M3 - Article

C2 - 2210748

VL - 85

SP - 403

EP - 404

JO - Human genetics

JF - Human genetics

SN - 0340-6717

IS - 4

ER -

Frequency of deletion 508 among Irish cystic fibrosis patients

Abstract

Keywords

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