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Full-Text Articles in Obstetrics and Gynecology
Molecular Genetic Studies And Delineation Of The Oculocutaneous Albinism Phenotype In The Pakistani Population, Thomas J. Jaworek, Tasleem Kausar, Shannon M. Bell, Nabeela Tariq, Muhammad I. Maqsood, Asma Sohail, Muhammad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S. Shaikh, Zubair M. Ahmed
Molecular Genetic Studies And Delineation Of The Oculocutaneous Albinism Phenotype In The Pakistani Population, Thomas J. Jaworek, Tasleem Kausar, Shannon M. Bell, Nabeela Tariq, Muhammad I. Maqsood, Asma Sohail, Muhammad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S. Shaikh, Zubair M. Ahmed
Obstetrics and Gynecology Faculty Publications
Background: Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations.
Methods: We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site …