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. 2015 Nov 10:7:16-9.
doi: 10.1016/j.mgene.2015.10.006. eCollection 2016 Feb.

D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population

Maryam Sedghi  1 , Sadeq Vallian  1
Affiliations

D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population

Maryam Sedghi et al. Meta Gene. .

Abstract

Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease associated with progressive symmetric weakness and atrophy of the limb muscles. In view of the involvement of numerous point mutations and deletions associated with the disease, the application of polymorphic markers flanking the SMA critical region could be valuable in molecular diagnosis of the disease. In the present study, D5S351 and D5S1414 polymorphic markers located at the SMA critical region in the Iranian populations were characterized. Genotyping of the markers indicated the presence of six and nine different alleles for D5S351 and D5S1414, respectively. Haplotype frequency estimation in 25 trios families and 75 unrelated individuals indicated the presence of six informative haplotypes with frequency higher than 0.05 in the studied population. Furthermore, the D' coefficient and the χ(2) value for D5S351 and D5S1414 markers revealed the presence of linkage disequilibrium between the two markers in the Iranians. These data suggested that D5S351 and D5S1414 could be suggested as informative markers for linkage analysis and molecular diagnosis of SMA in the Iranian population.

Keywords: Carrier detection; Iranian population; Polymorphic markers; Spinal muscular Atrophy.

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Figures

Fig. 1
Fig. 1
Diagrammatic representation of the location of D5S351 and D5S1414 markers at the SMA critical region. CEN, centromer; TEL, telomere; NIAP, Neural inhibitory apoptosis protein.
See this image and copyright information in PMC

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References

    1. Brzustowicz L.M., Lehner T., Castilla L.H., Penchaszadeh G.K., Wilhelmsen K.C., Daniels R., Davies K.E., Leppert M., Ziter F., Wood D., Dubowitz V., Zerres K., Hausmanowa-Petrusewicz I., Ott J., Munsat T.L., Gilliam T.C. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3. Nature. 1990;344:540–541. - PubMed
    1. Burglen L., Seroz T., Miniou P., Lefevbre S., Burlet P., Munnich A., Pequignot E.V., Egly J., Melki J. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig–Hoffmann disease. Am. J. Hum. Genet. 1997;60(1):72–79. - PMC - PubMed
    1. Chen K.-L., Wang Y.L., Rennert H., Joshi I., Mills J.K., Leonard D.G.B., Wilson R.B. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy. Am. J. Med. Genet. 1999;85:463–469. - PubMed
    1. Chen W.J., Wu Z.Y., Lin M.T., Su J.F., Lin Y., Murong S.X., Wang N. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis. Arch. Neurol. 2007;64(2):225–231. - PubMed
    1. Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul. Disord. 2009;19:69–73. - PubMed

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