TY - JOUR
T1 - De-novo deletions in the paired domain of PAX6 in south Indian aniridic patients
AU - Neetirajan, G.
AU - Collinson, Jon Martin
AU - Krishnadas, Subbaiah Ramasamy
AU - Vijayalakshmi, Perumalsamy
AU - Shashikant, Shetty
AU - Reena, Chandrashekhar
AU - Sundaresan, Periasamy
PY - 2004
Y1 - 2004
N2 - 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.
AB - 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.
KW - PAX6
KW - aniridia
KW - allele-specific clones
KW - PCR-SSCP
KW - gene
KW - mutations
U2 - 10.1007/s10038-004-0200-1
DO - 10.1007/s10038-004-0200-1
M3 - Article
SN - 1434-5161
VL - 49
SP - 647
EP - 649
JO - Journal of Human Genetics
JF - Journal of Human Genetics
ER -