Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Nawaz, Sadia (författare)

Tariq, Muhammad (författare)

Azhar, Aysha (författare)

Rasool, Mahmood (författare)

Bakhtiar, Syeda Marriam (författare)

Ahmad, Ilyas (författare)

Rehman, Shoaib Ur (författare)

Jameel, Muhammad (författare)

Khan, Tahir Naeem (författare)

Baig, Shehla Anjum (författare)

Klar, Joakim (författare): Uppsala universitet,Institutionen för immunologi, genetik och patologi,Dahl

Dahl, Niklas (författare): Uppsala universitet,Institutionen för immunologi, genetik och patologi,Dahl

Baig, Shahid Mahmood (författare)

(creator_code:org_t)

2011
2011
Engelska.
Ingår i: Pakistan journal of medical sciences print. - 1682-024X .- 1681-715X. ; 27:3, s. 686-689

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Abstract Ämnesord

Stäng

Objective: To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mat de Meleda (MDM) or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Methodology: Single nucleotide polymorphism (SNPs) genotyping was performed using the Gene Chip Mapping 250K array (Affymetrix). Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel pOlymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fast link computer package. All three coding exons of ARS (component B) gene were amplified by PCR and sequenced. Conclusion: Sequencing of all the coding exons of ARS (component B) gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine (256G>A) and as a result the amino acid Glycine is replaced by Arginine at position 86 (G86R). This finding will facilitate control of affected MDM births in the Pakistani families.

Av författaren/redakt...: Nawaz, Sadia; Tariq, Muhammad; Azhar, Aysha; Rasool, Mahmood; Bakhtiar, Syeda ...; Ahmad, Ilyas; visa fler...; Rehman, Shoaib U ...; Jameel, Muhammad; Khan, Tahir Naee ...; Baig, Shehla Anj ...; Klar, Joakim; Dahl, Niklas; Baig, Shahid Mah ...; visa färre...

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