Table 1 of
Reddy, Mol Vis 2004;
10:696-702.Table 1 of
Reddy, Mol Vis 2004;
10:696-702.
Table 1. Distribution of 16 CYP1B1 mutations in 24 PCG patients in Indian and world populations
The details of 16 CYP1B1 mutations reported, along with their location in the gene, which exon, the type of change, and the restriction enzymes used for screening those mutations by RFLP. The "Cases" column indicates the number of cases in which the corresponding mutation was present out of a total 24 cases with mutations in the present study. The "Populations" column indicates the detection of a particular mutation in various global populations; references are cited for those noted reported herein. The minus sign (-) in the "Restriction site" column indicates the abolition of the restriction site and the plus sign (+) indicates the creation of the restriction site. In the "Cases" column, the asterisk indicates cases which include one compound heterozygous with R368H.
Serial Restriction Cases
number Nucleotide change Exon Mutation site (n=24) Populations
------ ------------------------ ---- -------- ----------- ----- -----------------
1 g.3905-3927del23 bp II - Bbv CI 1 India
2 g.3987 G>A II G61E + Taq I 1* Saudi Arabia [14]
India
3 g.4035 T>C II L77P 1 Saudi Arabia [14]
India
4 g.4148 G>C II A115P - Bsg I 1 India
5 g.4200 T>G II M132R - Nla III 1 India
6 g.4236 A>C II Q144P - Msp A1I 1 India
7 g.4383 C>T II P193L + Eco 801I 1 India [16]
8 g.4491 G>A II E229K - Eam 1140I 1 Lebanon [20]
France [21]
India [16]
9 g.4520 A>C II S239R 2 India
10 g.7900-7901delCG III - Taq I 1 India
11 g.7940 G>A III R368H - Taa I 7 Saudi Arabia [14]
Brazil [11]
USA [22]
India [16]
12 g.8005 C>T III R390C + Hinf I 2 India [17]
13 g.8006 G>A III R390H - Cfo I 3* Pakistan [19]
India
14 g.8147 C>T III P437L 1 Turkey [19]
Brazil [11]
India
15 g.8234 G>A III G466D 1 India
16 g.8037-8046dupTCATGCCACC III + Nla III 1 USA [22]
UK [19]
Turkey [19]
Brazil [11]
Germany [20]
France [21]
India
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