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Br J Ophthalmol 93:1359-1364 doi:10.1136/bjo.2008.148155
  • Original Article

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

Table 2

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.

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