High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

Marianne Schwartz; Nicolina  Sørensen; Niels Jacob Brandt; Estrid Høgdall; Turid  Holm

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

Marianne Schwartz, Nicolina Sørensen, Niels Jacob Brandt, Estrid Høgdall, Turid Holm

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

41 Citations (Scopus)

Abstract

We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

Original language	English
Pages (from-to)	703-706
Number of pages	4
Journal	Human Genetics
Volume	95
Issue number	6
Publication status	Published - Jun 1995
Externally published	Yes

Keywords

cystic fibrosis
Faroe Islands
genetics

Cite this

@article{8bce3b0c1cf841e8b5bc4d22bb185c2d,

title = "High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study",

abstract = "We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.",

keywords = "cystic fibrosis, Faroe Islands, genetics",

author = "Marianne Schwartz and Nicolina S{\o}rensen and Brandt, {Niels Jacob} and Estrid H{\o}gdall and Turid Holm",

year = "1995",

month = jun,

language = "English",

volume = "95",

pages = "703--706",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Nature Switzerland ",

number = "6",

}

TY - JOUR

T1 - High incidence of cystic fibrosis on the Faroe Islands

T2 - a molecular and genealogical study

AU - Schwartz, Marianne

AU - Sørensen, Nicolina

AU - Brandt, Niels Jacob

AU - Høgdall, Estrid

AU - Holm, Turid

PY - 1995/6

Y1 - 1995/6

N2 - We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

AB - We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

KW - cystic fibrosis

KW - Faroe Islands

KW - genetics

UR - https://pubmed.ncbi.nlm.nih.gov/7789957/

M3 - Article

SN - 0340-6717

VL - 95

SP - 703

EP - 706

JO - Human Genetics

JF - Human Genetics

IS - 6

ER -

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

Abstract

Keywords

Other files and links

Fingerprint

Cite this