Balkan Journal of Medical Genetics

GENE MAPPING IN AN ANOPHTHALMIC PEDIGREE OF A CONSANGUINEOUS PAKISTANI FAMILY OPENED NEW HORIZONS FOR RESEARCH
Saleha S, Ajmal M, Zafar S, Hameed A
*Corresponding Author: Dr. Shamim Saleha, Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat 26000, Khyber Paktunkhwa, Pakistan. Tel: +92-922-5291-4659. Cell: +92-333-964-2532. Fax: +92-922-554-556. E-mail: shamimsaleha@yahoo.com
page: 77

RESULTS

In an ascertained consanguineous family with isolated clinical anophthalmia, the phenotypically normal parents with pedigree ID 2MOP001and 2MOP002, produced two affected daughters with pedigree ID 2MOP003 and 2MOP 006 (Figure 3). The proband, (2MOP003), was the first daughter identified with bilateral clinical anophthalmia, and she helped in tracing the disease in this family. Bilateral clinical anophthalmia was present at birth in both the affected daughters and the ages of these affected daughters were between 4-13 years. In this study, no evidence of linkage was observed with any of the STR markers for the 14q32, 14q24.3, 18q 21.3 and 14q21-22 loci and were therefore excluded. However, in view of the obtained results, this family with clinical anophthalmia was mapped to a locus on chromosome 3q26.3-q27, where the SOX2 gene resides, as affected daughters showed homozygosity for this locus within a 3 cM (centimorgan) in this region for STR markers D3S 2427, D3S1262, D1S2436 and D3S1580 (Figure 4). In the pedigree under study, the parents of the affected daughters were first cousins, and both carried the same disease chromosome in a heterozygous state (Figure 3). However, the mutations were not identified in the single exonic sequence and regulatory element of the SOX2 gene by comprehensive mutational analysis of both normal and affected individuals. Only two individuals were found to be affected, thus, the Lod score genes could not be calculated to examine the combined effects of the genes.

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