Comparative analysis of carrier frequencies of ABCA4 disease-associated alleles in control individuals from different populations
| Screening tools | Confirmation method | No. of control chromosomes | No. of mutated control chromosomes | Frequency (alleles) (%) | Frequency (individuals) (%) | Reference | Population |
| DGGE+dHPLC+SSCP | Direct sequencing | 440 | 27 | 6.1 | 12.3 | Rivera et al (2000)18 | Germany |
| SSCP+HA (heteroduplex analyses) | Direct sequencing | 440 | Allikmets et al (1997)7 | USA | |||
| ASO (c.2588G>C) | 622 | 9 | 1.4 | 2.9 | Maugeri et al (1999)20 | The Netherlands | |
| ASO (c.2588G>C+c.2828G>A) | 308 | 2 | 0.6 | 1.3 | Maugeri et al (1999)20 | The Netherlands | |
| ASO (c.2828G>A) | 308 | 9 | 2.9 | 5.8 | Maugeri et al (1999)20 | The Netherlands | |
| ABCR400 array | SSCP+direct sequencing | 192 | 9 | 4.7 | 9.4 | Jaakson et al (2003)10 | USA |
| dHPLC+ABCR400 array (p.Arg1129Leu) | Direct sequencing | 556 | 2 | 0.36 | 0.72 | Present study | Spain |
| ABCR400 array | Direct sequencing | 156 | 15 | (9.6) | (19.2) | Present study | Spain |
ASO, allele-specific nucleotide; DGGE, denaturing gradient gel electrophoresis; dHPLC, denaturing-HPLC; HA, heteroduplex analyses; SSCP, single-strand conformation polymorphism.