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. 1999 Dec;65(6):1803-6.
doi: 10.1086/302658.

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia

A Pandya, X J Xia, R Erdenetungalag, M Amendola, B Landa, J Radnaabazar, B Dangaasuren, G Van Tuyle, W E Nance

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia

A Pandya et al. Am J Hum Genet. 1999 Dec.
No abstract available

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Figures

Figure 1
Figure 1
Representative gel with restriction enzyme digestion pattern of individuals with the A1555G mutation alone (lanes 4 and 5), with the 7445 mutation alone (lanes 12 and 13), and with both mutations (lanes 8 and 9). The band pattern for individuals with normal hearing is depicted for each category with and without digestion with the appropriate restriction enzyme. The A1555G mutation abolishes a site for the Alw26I enzyme. The undigested PCR product of 1605 bp is digested in normal individuals to yield bands of 1106, 293, and 206 bp. In affected individuals, lack of digestion results in a larger band at 1399 bp and in the lower band at 206 bp. The PCR product obtained with primers for the nt7445 mutation is 662 bp. In unaffected individuals, digestion with the restriction enzyme XbaI results in two bands—400 and 262 bp in size. The presence of a mutation at this nt abolishes the recognition sequence for this enzyme with absence of digestion after incubation with the enzyme.
Figure 2
Figure 2
Sense strand sequence of the 3′ region of the tRNA ser(UCN) in a normal individual (A) and in three deaf students (B-D) from Mongolia. B, A deaf student with the double mutation showing the AGA→AAA substitution at nt7444. C, A deaf student with isolated nt 7445 mutation, with substitution of AGA→AGC. D, A deaf student with isolated nt 7443 change, with AGA→GGA substitution.
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References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/Omim (for keratoderma, palmoplantar, with deafness [MIM 148350])

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