Number | Researcher, population | Genetic polymorphism | Screened gene location | Number | Researcher, population | Genetic polymorphism | Screened gene location |
1 | Shastry et al, 6 USA | R121W and L108P missense mutations. | Exon 3 | 6 | Haider et al,22 Kuwait | A105T dan Val160Glu mutations. | Exon 3 |
2 | Buffen et al, 31 (1999), USA | Mutations at 3’ UTR. | Exon 1 | 7 | Haider et al,19 Kuwait | AA genotype of C597A polymorphism. | Exon 3 |
3 | Haider et al, 7 Kuwait | R121W and L108P missense mutations. | Exon 3 | 8 | Kim et al,9 Korea | No gene mutation. | 3 exon and their flanking areas |
4 | Talks et al,27 London, UK | Deletions (one 5 bp and the other 71 bp) of the CT repeat sequence in exon 1 of NDP). | Exon 1 | 9 | Hutcheson et al,28 various ethnic groups in the USA | Six alterations: 1 in the 5’ UTR of exon 2, and 4 in the 3’ UTR of exon 3, and the other 14 bp deletion in the 5’ UTR of exon 1. | Exons 1, 2, 3, 5’ UTR exon 2 and 3’ UTR exon 3 |
5 | Hiraoka e t al,11 USA | Insertion of an additional 12 bp CT repeat and 14 bp deletion in exon 1. | 3 exons, splice sites and the 3’ UTR region | 10 | Hiraoka et al,12 Japan | A heterozygous mutation at 5′ UTR of exon 1 in the ND gene and a leucine insertion in the signal peptide of LRP5. | 3 exon and their flanking areas |
ND, Norrie disease; ROP, retinopathy of prematurity; UTR, untranslated region; bp, base pair.