A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain

Ryad Tamouza, K. Sadki, V. Schaeffer, E. Carbonnelle, Zohreh Tatari Calderone, J. Chabod, A. Toubert, C. Raffoux, C. Sayada, D. Charron

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We describe in this work a novel HLA-B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA-B allele as a B-blank, Bw-blank. Retrospective DNA typing by polymerase chain reaction using sequence-specific. primers (PCR-SSP) has established the correspondence of this blank allele with the classical HLA-B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the α1 domain, providing the most likely mechanism underlying the observed null phenotype.

Original languageEnglish
Pages (from-to)378-380
Number of pages3
JournalTissue Antigens
Volume55
Issue number4
DOIs
Publication statusPublished - 2000
Externally publishedYes

Fingerprint

HLA-B Antigens
Nonsense Codon
Alleles
Exons
Polymerase Chain Reaction
DNA Fingerprinting
DNA-Directed DNA Polymerase
Point Mutation
Sequence Analysis
Phenotype

Keywords

  • HLA-B40
  • Null allele
  • Stop codon

ASJC Scopus subject areas

  • Immunology
  • Cell Biology

Cite this

A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain. / Tamouza, Ryad; Sadki, K.; Schaeffer, V.; Carbonnelle, E.; Tatari Calderone, Zohreh; Chabod, J.; Toubert, A.; Raffoux, C.; Sayada, C.; Charron, D.

In: Tissue Antigens, Vol. 55, No. 4, 2000, p. 378-380.

Research output: Contribution to journalArticle

Tamouza, R, Sadki, K, Schaeffer, V, Carbonnelle, E, Tatari Calderone, Z, Chabod, J, Toubert, A, Raffoux, C, Sayada, C & Charron, D 2000, 'A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain', Tissue Antigens, vol. 55, no. 4, pp. 378-380. https://doi.org/10.1034/j.1399-0039.2000.550414.x
Tamouza, Ryad ; Sadki, K. ; Schaeffer, V. ; Carbonnelle, E. ; Tatari Calderone, Zohreh ; Chabod, J. ; Toubert, A. ; Raffoux, C. ; Sayada, C. ; Charron, D. / A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain. In: Tissue Antigens. 2000 ; Vol. 55, No. 4. pp. 378-380.
@article{a151a7421c9249dea7aaf39908412aeb,
title = "A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain",
abstract = "We describe in this work a novel HLA-B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA-B allele as a B-blank, Bw-blank. Retrospective DNA typing by polymerase chain reaction using sequence-specific. primers (PCR-SSP) has established the correspondence of this blank allele with the classical HLA-B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the α1 domain, providing the most likely mechanism underlying the observed null phenotype.",
keywords = "HLA-B40, Null allele, Stop codon",
author = "Ryad Tamouza and K. Sadki and V. Schaeffer and E. Carbonnelle and {Tatari Calderone}, Zohreh and J. Chabod and A. Toubert and C. Raffoux and C. Sayada and D. Charron",
year = "2000",
doi = "10.1034/j.1399-0039.2000.550414.x",
language = "English",
volume = "55",
pages = "378--380",
journal = "HLA",
issn = "2059-2302",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain

AU - Tamouza, Ryad

AU - Sadki, K.

AU - Schaeffer, V.

AU - Carbonnelle, E.

AU - Tatari Calderone, Zohreh

AU - Chabod, J.

AU - Toubert, A.

AU - Raffoux, C.

AU - Sayada, C.

AU - Charron, D.

PY - 2000

Y1 - 2000

N2 - We describe in this work a novel HLA-B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA-B allele as a B-blank, Bw-blank. Retrospective DNA typing by polymerase chain reaction using sequence-specific. primers (PCR-SSP) has established the correspondence of this blank allele with the classical HLA-B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the α1 domain, providing the most likely mechanism underlying the observed null phenotype.

AB - We describe in this work a novel HLA-B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA-B allele as a B-blank, Bw-blank. Retrospective DNA typing by polymerase chain reaction using sequence-specific. primers (PCR-SSP) has established the correspondence of this blank allele with the classical HLA-B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the α1 domain, providing the most likely mechanism underlying the observed null phenotype.

KW - HLA-B40

KW - Null allele

KW - Stop codon

UR - http://www.scopus.com/inward/record.url?scp=0034013510&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034013510&partnerID=8YFLogxK

U2 - 10.1034/j.1399-0039.2000.550414.x

DO - 10.1034/j.1399-0039.2000.550414.x

M3 - Article

VL - 55

SP - 378

EP - 380

JO - HLA

JF - HLA

SN - 2059-2302

IS - 4

ER -