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Abstract #12062 Published in IGR 7-1
De novo deletions in the paired domain of PAX6 in south Indian aniridic patients
Neethirajan G; Collinson JM; Krishnadas SR; Vijayalakshmi P; Shashikant S; Reena-C; Sundaresan PJournal of Human Genetics 2004; 49: 647-649
We analyzed the sequence variation in the coding exons of PAX6 in eight unrelated south Indian pedigrees with one aniridic individual in each family. Mutations were detected by PCR, SSCP and allele-specific cloning followed by sequencing. Here we report two de novo deletion mutations, c.537delA (codon 59) and c.728del14 (codon 122), in the paired domain of PAX6. These deletions probably represent null or hypomorphic alleles consistent with PAX6 haploinsufficiency as the underlying genetic factor of aniridia.
Dr. P. Sundaresan, Department of Genetics, Aravind Medical Research Foundation, Madurai, 625 020, India
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)