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Figure 1 | BMC Medical Genetics

Figure 1

From: A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

Figure 1

Mutation(s) in the SRY gene in the affected family. (A) Polymerase chain reaction-SSCP analysis of SRY gene. Lane 1, SRY from normal male control DNA (II-2); lanes 2 and 3: SRY with altered band from patient I-1 and II-5 respectively. The migration pattern from I-1 clearly indicates that there are two different alleles that he shares with normal son (not shown) and affected daughter; (B) Pedigree of the affected family also showing partial electropherograms of the mutation (deletion of C in the HMG box (helix 2) leading to a premature stop codon as L94fsX180) identified in patient II-5 and her father (I-1). These results were obtained by sequencing of the amplification products after cloning. Wild-type electropherogram identified in the normal brother (II-2) is also indicated. White symbols denote unaffected individuals where as black symbols denote affected individuals. The arrow indicates the proband (II-5).

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BMC Medical Genetics

ISSN: 1471-2350

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