Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles

Jennie Hui, A. Oka, M. Tomizawa, Guan Tay, Jerzy Kulski, W.J. Penhale, S.P.A. Iaschi, S. Makino, G. Tamiya, H. Inoko

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.
Original languageEnglish
Pages (from-to)263-269
JournalTissue Antigens
Volume63
Issue number3
DOIs
Publication statusPublished - 2004

Fingerprint

DNA Sequence Analysis
Genetic Recombination
Genes
Alleles
Polymorphism
DNA
Major Histocompatibility Complex
Genetic Markers
Codon
Sequence Analysis
Nucleotides

Cite this

Hui, Jennie ; Oka, A. ; Tomizawa, M. ; Tay, Guan ; Kulski, Jerzy ; Penhale, W.J. ; Iaschi, S.P.A. ; Makino, S. ; Tamiya, G. ; Inoko, H. / Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles. In: Tissue Antigens. 2004 ; Vol. 63, No. 3. pp. 263-269.
@article{9593f258a3064c778ec72eb5ef4c22ff,
title = "Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles",
abstract = "Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.",
author = "Jennie Hui and A. Oka and M. Tomizawa and Guan Tay and Jerzy Kulski and W.J. Penhale and S.P.A. Iaschi and S. Makino and G. Tamiya and H. Inoko",
year = "2004",
doi = "10.1111/j.1399-0039.2004.0175.x",
language = "English",
volume = "63",
pages = "263--269",
journal = "Tissue Antigens",
issn = "0001-2815",
publisher = "Wiley-Blackwell",
number = "3",

}

Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles. / Hui, Jennie; Oka, A.; Tomizawa, M.; Tay, Guan; Kulski, Jerzy; Penhale, W.J.; Iaschi, S.P.A.; Makino, S.; Tamiya, G.; Inoko, H.

In: Tissue Antigens, Vol. 63, No. 3, 2004, p. 263-269.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles

AU - Hui, Jennie

AU - Oka, A.

AU - Tomizawa, M.

AU - Tay, Guan

AU - Kulski, Jerzy

AU - Penhale, W.J.

AU - Iaschi, S.P.A.

AU - Makino, S.

AU - Tamiya, G.

AU - Inoko, H.

PY - 2004

Y1 - 2004

N2 - Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.

AB - Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.

U2 - 10.1111/j.1399-0039.2004.0175.x

DO - 10.1111/j.1399-0039.2004.0175.x

M3 - Article

VL - 63

SP - 263

EP - 269

JO - Tissue Antigens

JF - Tissue Antigens

SN - 0001-2815

IS - 3

ER -