Figure 4
From: Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure
Restriction fragment length polymorphism analysis of a KIT variant in exon 17 using Ssp I Undigested DNA and wild-type DNA digested with Ssp I gives a single band of 390 bp. Homozygosity for the variant yields two fragments of 207 and 183 bp. A heterozygote carrier would have demonstrated all three of the fragment lengths. Therefore, this patient is homozygous for this variant.