Y-STR haplotypes in populations from the Eastern Mediterranean region of Turkey

Hyperekplexia (startle disease) is a hereditary motor disease caused by mutations within the GLRA1 gene (Chr. 5q33.1), which encodes the alpha1 subunit of the inhibitory glycine receptor (GlyR). While most patients are diagnosed with dominant hyperekplexia associated with point mutations within or adjacent to the channel pore, recessive hyperekplexia is less frequent. Here, we report five new pedigrees of recessive hyperekplexia in apparently unrelated families of Kurdish origin associated with a deletion of exons 1-7 of the GLRA1 gene. The deletion was identical in all families, encompassing 329 Kb of genomic sequence. No other known functional genes were involved, indicating that the GLRA1null allele is distinct from the 5q syndrome. Analysis of the DNA sequence flanking the proximal and distal breakpoint revealed no significant homology of sequences immediately adjacent to the breaks. Consensus sites for Toposiomerase II were detected close to the breakpoint compatible with an illegitimate recombination event. No heterozygous carriers of the deletion allele were detected by screening of 500 individuals from the southeastern Mediterranean region belonging to four different ethnic groups. Hence, the identical nature of the breakpoint junction in all patients and carriers suggests a founder mutation in an ethnic population originating from Turkey.

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“…Ethnicity was defined by voluntary self-assignment of the families. DNA was isolated as described previously [Dönbak et al 2005].…”

Section: Population Screeningmentioning

confidence: 99%

Identification of the microdeletion breakpoint in aGLRA1null allele of Turkish hyperekplexia patients

et al. 2006

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“…html). Up to now, reports on large volumes of population genetic data from a wide range of ethnic groups for the Y-STR loci have focused on the core loci [16][17][18][19], while several papers have reported polymorphic Y-STR loci other than the core loci [20][21][22].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of miniY-STR multiplex PCR systems for extended 16 Y-STR loci

et al. 2007

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We developed three short amplicon Y-chromosomal short tandem repeat (miniY-STR) polymerase chain reaction multiplex systems for 16 Y-STR loci (DYS441, DYS446, DYS462, DYS481, DYS485, DYS495, DYS505, DYS510, DYS511, DYS549, DYS 575, DYS578, DYS593, DYS618, DYS638, and DYS643), using newly designed primer sets. In an assay of 238 Japanese males using the three miniY-STR systems, amplification product lengths ranged from 91 to 151 bp for all 16 Y-STR loci. We identified 212 different haplotypes among the 238 individuals, finding haplotype diversity and discrimination capacity of 0.9974 and 0.8908, respectively. An assay of degraded DNA samples using the three miniY-STR multiplex systems, including artificially degraded samples and degraded forensic casework samples, proved remarkably effective. In conclusion, analyses of miniY-STR multiplex systems will play an important role in forensic applications involving degraded DNA samples for which genotyping using only commercial kits is ill-suited.

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Y-Chromosome DNA Testing

Butler

2012

Advanced Topics in Forensic DNA Typing

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Y-STR haplotypes in populations from the Eastern Mediterranean region of Turkey

Cited by 7 publications

References 8 publications

Identification of the microdeletion breakpoint in aGLRA1null allele of Turkish hyperekplexia patients

Identification of the microdeletion breakpoint in aGLRA1null allele of Turkish hyperekplexia patients

Evaluation of miniY-STR multiplex PCR systems for extended 16 Y-STR loci

Y-Chromosome DNA Testing

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