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Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Fathallah DM, Jamal T, Barbouche MR, Bejaoui M, Hariz MB, Dellagi K - J. Biomed. Biotechnol. (2001)

Bottom Line: We have also characterized a novel Xba1 polymorphic site located at the 5' end of the ITGB2 locus.Family studies showed that the 1497delG mutation segregated with this marker and the intragenic AvaII polymorphic marker, suggesting the presence of a founder effect.In view of the literature published on the molecular genetics of LAD and considering the ethnic origin of the patients studied, our findings confirm the heterogeneity of the mutations causing LAD and point out potential mutational hot spots in the ITGB2 gene.

View Article: PubMed Central - HTML - PubMed

ABSTRACT
We have identified four different mutations causing leukocyte adhesion Deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our study, the G284S was a recurrent mutation while the R593C occurred de novo. We have also characterized a novel Xba1 polymorphic site located at the 5' end of the ITGB2 locus. Family studies showed that the 1497delG mutation segregated with this marker and the intragenic AvaII polymorphic marker, suggesting the presence of a founder effect. The observation of a heterogeneous spectrum including de novo and recurrent mutations causing LAD in a highly inbred population is rather unexpected. In view of the literature published on the molecular genetics of LAD and considering the ethnic origin of the patients studied, our findings confirm the heterogeneity of the mutations causing LAD and point out potential mutational hot spots in the ITGB2 gene.

No MeSH data available.


Related in: MedlinePlus

Polymorphism of the Xba1 site in a 1.1 Kb fragment generated from the 5′ region of the human ITGB2 (CD18) gene. 1.2% agarose gel electrophoresis of amplified DNA from Tunisian individuals following Xba1 restriction enzyme digestion. Lane 1: individual homozygous for allele A1 (absence of the polymorphic Xba1 site). Lanes 2, 3, 4, and 5: individuals homozygous for allele A2 (829 and 283 bp). Lanes 6 and 7: individuals heterozygous A1/A2.
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Figure 2: Polymorphism of the Xba1 site in a 1.1 Kb fragment generated from the 5′ region of the human ITGB2 (CD18) gene. 1.2% agarose gel electrophoresis of amplified DNA from Tunisian individuals following Xba1 restriction enzyme digestion. Lane 1: individual homozygous for allele A1 (absence of the polymorphic Xba1 site). Lanes 2, 3, 4, and 5: individuals homozygous for allele A2 (829 and 283 bp). Lanes 6 and 7: individuals heterozygous A1/A2.

Mentions: An STS assay was designed to amplify a 1.1 Kb genomic DNA afragment that contains an Xba1 site. Digestion of this PCR product with Xba I permitted the identification of two alleles: 1.1 kb (allele A1 or Xba−) and 829 bp + 283 bp (allele A2 or Xba+) (see Figure 2. The Xba I alleles frequency was 0.5 for each allele within the same sample of non-affected Tunisian individuals.


Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Fathallah DM, Jamal T, Barbouche MR, Bejaoui M, Hariz MB, Dellagi K - J. Biomed. Biotechnol. (2001)

Polymorphism of the Xba1 site in a 1.1 Kb fragment generated from the 5′ region of the human ITGB2 (CD18) gene. 1.2% agarose gel electrophoresis of amplified DNA from Tunisian individuals following Xba1 restriction enzyme digestion. Lane 1: individual homozygous for allele A1 (absence of the polymorphic Xba1 site). Lanes 2, 3, 4, and 5: individuals homozygous for allele A2 (829 and 283 bp). Lanes 6 and 7: individuals heterozygous A1/A2.
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Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC129056&req=5

Figure 2: Polymorphism of the Xba1 site in a 1.1 Kb fragment generated from the 5′ region of the human ITGB2 (CD18) gene. 1.2% agarose gel electrophoresis of amplified DNA from Tunisian individuals following Xba1 restriction enzyme digestion. Lane 1: individual homozygous for allele A1 (absence of the polymorphic Xba1 site). Lanes 2, 3, 4, and 5: individuals homozygous for allele A2 (829 and 283 bp). Lanes 6 and 7: individuals heterozygous A1/A2.
Mentions: An STS assay was designed to amplify a 1.1 Kb genomic DNA afragment that contains an Xba1 site. Digestion of this PCR product with Xba I permitted the identification of two alleles: 1.1 kb (allele A1 or Xba−) and 829 bp + 283 bp (allele A2 or Xba+) (see Figure 2. The Xba I alleles frequency was 0.5 for each allele within the same sample of non-affected Tunisian individuals.

Bottom Line: We have also characterized a novel Xba1 polymorphic site located at the 5' end of the ITGB2 locus.Family studies showed that the 1497delG mutation segregated with this marker and the intragenic AvaII polymorphic marker, suggesting the presence of a founder effect.In view of the literature published on the molecular genetics of LAD and considering the ethnic origin of the patients studied, our findings confirm the heterogeneity of the mutations causing LAD and point out potential mutational hot spots in the ITGB2 gene.

View Article: PubMed Central - HTML - PubMed

ABSTRACT
We have identified four different mutations causing leukocyte adhesion Deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our study, the G284S was a recurrent mutation while the R593C occurred de novo. We have also characterized a novel Xba1 polymorphic site located at the 5' end of the ITGB2 locus. Family studies showed that the 1497delG mutation segregated with this marker and the intragenic AvaII polymorphic marker, suggesting the presence of a founder effect. The observation of a heterogeneous spectrum including de novo and recurrent mutations causing LAD in a highly inbred population is rather unexpected. In view of the literature published on the molecular genetics of LAD and considering the ethnic origin of the patients studied, our findings confirm the heterogeneity of the mutations causing LAD and point out potential mutational hot spots in the ITGB2 gene.

No MeSH data available.


Related in: MedlinePlus