Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis

Al-Jaberi, Sara A.; Ben-Salem, Salma; Messedi, Meriam; Ayadi, Fatma; Ali, Bassam R.

doi:10.1016/j.gene.2013.07.062

Cited by 7 publications

(2 citation statements)

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“…It has been reported that the counts of individual genes in the KIR locus directly influence early aspects of HIV-1 control 52 . This finding deserves further investigations in order to understand different degrees of susceptibility and resistance to HIV infection in Tunisia and other the Middle East and North African (MENA) populations 53,54 .…”

Section: Discussionmentioning

confidence: 79%

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

et al. 2021

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Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs can act on human phenotype diversity, encompassing rare Mendelian diseases and genomic disorders. The North African populations remain underrepresented in public genetic databases in terms of single-nucleotide variants as well as for larger genomic mutations. In this study, we present the first CNV map for a North African population using the Affymetrix Genome-Wide SNP (single-nucleotide polymorphism) array 6.0 array genotyping intensity data to call CNVs in 102 Tunisian healthy individuals. Two softwares, PennCNV and Birdsuite, were used to call CNVs in order to provide reliable data. Subsequent bioinformatic analyses were performed to explore their features and patterns. The CNV map of the Tunisian population includes 1083 CNVs spanning 61.443 Mb of the genome. The CNV length ranged from 1.017 kb to 2.074 Mb with an average of 56.734 kb. Deletions represent 57.43% of the identified CNVs, while duplications and the mixed loci are less represented. One hundred and three genes disrupted by CNVs are reported to cause 155 Mendelian diseases/phenotypes. Drug response genes were also reported to be affected by CNVs. Data on genes overlapped by deletions and duplications segments and the sequence properties in and around them also provided insights into the functional and health impacts of CNVs. These findings represent valuable clues to genetic diversity and personalized medicine in the Tunisian population as well as in the ethnically similar populations from North Africa.

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Section: Discussionmentioning

confidence: 79%

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

et al. 2021

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“…The mutant allele is rarely observed among Arab populations . A frequency of 2.07% has been described previously in Saudi Arabia but with no indication of the studied region.…”

Section: Genotype and Allele Frequency Of Ccr5‐δ32 In The Saudi Populmentioning

confidence: 63%

The prevalence of CCR5‐Δ32 mutation in a cohort of Saudi stem cell donors

Alarifi

Alalwan

Alturki

et al. 2017

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CCR5 is a chemokine receptor that was found to be used by HIV as a co-receptor for entering target cells. A 32 bp deletion was described in certain people that rendered CCR5 non-functional. The mutant allele CCR5-Δ32 has been shown to prevent HIV infection. In addition, stem cell transplantation with the CCR5-Δ32 homozygous genotype can lead to clearance of HIV infection. In this study, our aim was to investigate the frequency of CCR5-Δ32 mutation in a cohort of stem cell donors from cord blood bank and stem cell donor registry. A total of 3025 samples were collected from healthy stem cell donors (2625) and from cord blood units (400). DNA was extracted and the CCR5 gene was amplified by polymerase chain reaction (PCR) in a light cycler system using SYBR Green dye. The mutated gene was further confirmed by direct gene sequencing. We found 38 heterozygous for CCR5-Δ32 and one homozygous CCR5 mutation (Δ32/Δ32) out of the 3025 tested individuals. We conclude that the protective CCR5-Δ32 allele appears to be rarely present in Saudi Arabia.

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Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia

et al. 2019

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Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis

Cited by 7 publications

References 50 publications

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

The prevalence of CCR5‐Δ32 mutation in a cohort of Saudi stem cell donors

Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia

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