Table 3 of
Sundaresan, Mol Vis 2004;
10:1005-1010.Table 3 of
Sundaresan, Mol Vis 2004;
10:1005-1010.
Table 3. TYR gene mutations in patients with Oculocutaneous albinism 1 (OCA1) in Indian families
This table describes two novel frameshift mutations and a known nonsense mutation in TYR gene in Indian OCA1 patients. The five exons of the TYR gene were sequenced for each individual using PCR followed by bi-directional sequencing, and the findings are shown.
Allele 1 Allele 2
----------------- -----------------
Mutation Mutation
OCA1 Disease Position Position
Pedigrees Individual status Exon (cDNA/bp) Exon (cDNA/bp) Genotypic status
---------- ---------- -------- ---- ---------- ---- ---------- ---------------------
Family I 1-1 Affected 2 c.937del8 5 c.1379del2 Compound heterozygote
1-2 Normal 5 c.1379del2 Wild type Carrier heterozygote
1-3 Normal 2 c.937del8 Wild type Carrier heterozygote
1-4 Normal 2 Wild type 5 Wild type Normal homozygote
1-5 Normal 2 Wild type 5 Wild type Normal homozygote
1-6 Affected 2 c.937del8 5 c.1379del2 Compound heterozygote
Family II 2-1 Affected 5 c.1379del2 5 c.1379del2 Compound homozygote
2-2 Normal 2 Wild type 5 Wild type Normal homozygote
2-3 Normal 5 c.1379del2 Wild type Carrier heterozygote
2-4 Normal 5 c.1379del2 Wild type Carrier heterozygote
Family III 3-1 Affected 5 c.1379del2 5 c.1379del2 Affected homozygote
3-2 Affected 5 c.1379del2 5 c.1379del2 Affected homozygote
3-3 Normal 5 c.1379del2 Wild type Carrier heterozygote
3-4 Normal 5 c.1379del2 Wild type Carrier heterozygote
3-5 Normal 5 c.1379del2 Wild type Carrier heterozygote
3-6 Affected 5 c.1379del2 5 c.1379del2 Affected homozygote
Family IV 4-1 Affected 2 Arg278STOP 5 c.1379del2 Compound heterozygote
4-2 Normal 2 Wild type 5 Wild type Normal homozygote
4-3 Affected 2 Arg278STOP 5 c.1379del2 Compound heterozygote
4-4 Normal 5 c.1379del2 Wild type Carrier heterozygote
4-5 Normal 2 Arg278STOP Wild type Carrier heterozygote
4-6 Normal 5 c.1379del2 Wild type Carrier heterozygote
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