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

Sedghi M, Vallian S - Meta Gene (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Islamic Republic of Iran.

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.

No MeSH data available.


Related in: MedlinePlus

Diagrammatic representation of the location of D5S351 and D5S1414 markers at the SMA critical region. CEN, centromer; TEL, telomere; NIAP, Neural inhibitory apoptosis protein.
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f0005: Diagrammatic representation of the location of D5S351 and D5S1414 markers at the SMA critical region. CEN, centromer; TEL, telomere; NIAP, Neural inhibitory apoptosis protein.

Mentions: D5S351 (UniSTS: 8886) and D5S1414 (UniSTS: 149791) markers located on the SMA critical region were genotyped. The genomic position of these two markers is represented in Fig. 1. Amplification condition for D5S1414 marker was as follows: 5 cycles consisting of primary denaturation at 94 °C for 9 min, denaturation at 94 °C for 15 s, annealing at 60 °C for 15 s, and extension at 72 °C for 30 s followed by 20 cycles consisting of denaturation at 94 °C for 15 s, annealing at 55 °C for 15 s, and extension at 72 °C for 30 s, followed by an extension period of 5 min at 72 °C. Temperature cycling conditions for D5S351 marker were as follows: primary denaturation 5 min, 94 °C; denaturation 15 s, 94 °C; annealing 15 s, 59 °C; extension 30 s, 70 °C; 23 cycles; final extension 5 min, 72 °C. Each 50 μL reaction contained 50 ng DNA, 5 μL of 500 mM KCl, 100 mM Tris–HCl (pH 8.4), 1–2 μl of 50 mM MgCl2, and 2 μL of 10 mM dNTP, 5 U SMQ-Taq DNA polymerase and 0.4 μL of 10 pM each primer.


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

Sedghi M, Vallian S - Meta Gene (2015)

Diagrammatic representation of the location of D5S351 and D5S1414 markers at the SMA critical region. CEN, centromer; TEL, telomere; NIAP, Neural inhibitory apoptosis protein.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4660382&req=5

f0005: Diagrammatic representation of the location of D5S351 and D5S1414 markers at the SMA critical region. CEN, centromer; TEL, telomere; NIAP, Neural inhibitory apoptosis protein.
Mentions: D5S351 (UniSTS: 8886) and D5S1414 (UniSTS: 149791) markers located on the SMA critical region were genotyped. The genomic position of these two markers is represented in Fig. 1. Amplification condition for D5S1414 marker was as follows: 5 cycles consisting of primary denaturation at 94 °C for 9 min, denaturation at 94 °C for 15 s, annealing at 60 °C for 15 s, and extension at 72 °C for 30 s followed by 20 cycles consisting of denaturation at 94 °C for 15 s, annealing at 55 °C for 15 s, and extension at 72 °C for 30 s, followed by an extension period of 5 min at 72 °C. Temperature cycling conditions for D5S351 marker were as follows: primary denaturation 5 min, 94 °C; denaturation 15 s, 94 °C; annealing 15 s, 59 °C; extension 30 s, 70 °C; 23 cycles; final extension 5 min, 72 °C. Each 50 μL reaction contained 50 ng DNA, 5 μL of 500 mM KCl, 100 mM Tris–HCl (pH 8.4), 1–2 μl of 50 mM MgCl2, and 2 μL of 10 mM dNTP, 5 U SMQ-Taq DNA polymerase and 0.4 μL of 10 pM each primer.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Islamic Republic of Iran.

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.

No MeSH data available.


Related in: MedlinePlus