Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an italian population

Daniela Peruccio; Sandra D’Alfonso; Iolanda Borelli; Antonio Amoroso; Gina Mazzola; Donato Marsico; Maura Bersanti; Patricia Richiardi

doi:10.1159/000154125

Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an italian population

Daniela Peruccio, Sandra D’Alfonso, Iolanda Borelli, Antonio Amoroso, Gina Mazzola, Donato Marsico, Maura Bersanti, Patricia Richiardi

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

Abstract

The NcoI RFLP of the tumor necrosis factor (TNF) βgene was analyzed in a panel of 105 unrelated healthy Italian blood do-nors. The gene frequencies of the 10.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DR 17.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism.

Original language	English
Pages (from-to)	103-110
Number of pages	8
Journal	Human Heredity
Volume	43
Issue number	2
DOIs	https://doi.org/10.1159/000154125
Publication status	Published - 1993
Externally published	Yes

Keywords

HLA
Haplotype
Italian population
Linkage disequilibrium
Polymorphism
Population genetics
RFLP
Tumor necrosis factor

Access to Document

10.1159/000154125

Cite this

@article{a28cd767cafa45cd89fa4eb1f8905a70,

title = "Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an italian population",

abstract = "The NcoI RFLP of the tumor necrosis factor (TNF) βgene was analyzed in a panel of 105 unrelated healthy Italian blood do-nors. The gene frequencies of the 10.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DR 17.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism.",

keywords = "HLA, Haplotype, Italian population, Linkage disequilibrium, Polymorphism, Population genetics, RFLP, Tumor necrosis factor",

author = "Daniela Peruccio and Sandra D{\textquoteright}Alfonso and Iolanda Borelli and Antonio Amoroso and Gina Mazzola and Donato Marsico and Maura Bersanti and Patricia Richiardi",

year = "1993",

doi = "10.1159/000154125",

language = "English",

volume = "43",

pages = "103--110",

journal = "Human Heredity",

issn = "0001-5652",

publisher = "S. Karger AG",

number = "2",

}

TY - JOUR

T1 - Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an italian population

AU - Peruccio, Daniela

AU - D’Alfonso, Sandra

AU - Borelli, Iolanda

AU - Amoroso, Antonio

AU - Mazzola, Gina

AU - Marsico, Donato

AU - Bersanti, Maura

AU - Richiardi, Patricia

PY - 1993

Y1 - 1993

N2 - The NcoI RFLP of the tumor necrosis factor (TNF) βgene was analyzed in a panel of 105 unrelated healthy Italian blood do-nors. The gene frequencies of the 10.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DR 17.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism.

AB - The NcoI RFLP of the tumor necrosis factor (TNF) βgene was analyzed in a panel of 105 unrelated healthy Italian blood do-nors. The gene frequencies of the 10.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DR 17.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism.

KW - HLA

KW - Haplotype

KW - Italian population

KW - Linkage disequilibrium

KW - Polymorphism

KW - Population genetics

KW - RFLP

KW - Tumor necrosis factor

UR - http://www.scopus.com/inward/record.url?scp=0027513836&partnerID=8YFLogxK

U2 - 10.1159/000154125

DO - 10.1159/000154125

M3 - Article

SN - 0001-5652

VL - 43

SP - 103

EP - 110

JO - Human Heredity

JF - Human Heredity

IS - 2

ER -

Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an italian population

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this