scholarly journals Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene

2002 ◽  
Vol 08 (01) ◽  
pp. 49-54
Author(s):  
R. M. Shawky ◽  
K. A. El Aleem ◽  
M. M. Rifaat ◽  
R. L. El Naggar ◽  
G. M. Marzouk
Keyword(s):  
Autosomal Recessive ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Phenylalanine Hydroxylase ◽  
Fragment Size ◽  
Genetic Disorder ◽  
Carrier Screening ◽  
Carrier Detection ◽  
Egyptian Population ◽  
Short Tandem

Phenylketonuria [PKU] is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase [PAH] system. Our work aimed to screen the PAH locus for the presence of potentially useful short tandem repeats [STR] as markers for carrier detection in PKU families in Egypt, and to determine the level of PAH heterozygosity within the Egyptian population. The system contains at least eight independent alleles in the Egyptian population, transmitted in a Mendelian fashion. Variations in the number of STR in the 16 families studied gave rise to polymorphisms that proved to be suitable markers for PKU carrier detection and prenatal diagnosis. The most frequent allelic fragment size in PKU patients was 246 bp [35.7%], which together with a fragment of 254 bp accounted for 60.7% of the mutant chromosomes.

Genetic polymorphism of 27 X-chromosomal short tandem repeats in an Egyptian population

2019 ◽  
Vol 37 ◽  
pp. 64-66 ◽  
Author(s):  
Mamiko Fukuta ◽  
Mohammed Gaballah ◽  
Kazushi Takada ◽  
Hiroki Miyazaki ◽  
Hideaki Kato ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Egyptian Population ◽  
Short Tandem

Population Genetics of Y-Chromosome Short Tandem Repeats in Humans

1997 ◽  
Vol 45 (3) ◽  
pp. 265-270 ◽  
Author(s):  
Anna Pérez-Lezaun ◽  
Francesc Calafell ◽  
Mark Seielstad ◽  
Eva Mateu ◽  
David Comas ◽  
...  
Keyword(s):  
Population Genetics ◽  
Y Chromosome ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Short Tandem

Conditional Genotypic Probabilities for Microsatellite Loci

Genetics ◽  
2000 ◽  
Vol 155 (4) ◽  
pp. 1973-1980
Author(s):  
Jinko Graham ◽  
James Curran ◽  
B S Weir
Keyword(s):  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Dirichlet Distribution ◽  
Forensic Dna ◽  
Match Probability ◽  
Microsatellite Genotype ◽  
Allelic State ◽  
Forensic Assessments ◽  
Dna Profiles ◽  
Short Tandem

Abstract Modern forensic DNA profiles are constructed using microsatellites, short tandem repeats of 2–5 bases. In the absence of genetic data on a crime-specific subpopulation, one tool for evaluating profile evidence is the match probability. The match probability is the conditional probability that a random person would have the profile of interest given that the suspect has it and that these people are different members of the same subpopulation. One issue in evaluating the match probability is population differentiation, which can induce coancestry among subpopulation members. Forensic assessments that ignore coancestry typically overstate the strength of evidence against the suspect. Theory has been developed to account for coancestry; assumptions include a steady-state population and a mutation model in which the allelic state after a mutation event is independent of the prior state. Under these assumptions, the joint allelic probabilities within a subpopulation may be approximated by the moments of a Dirichlet distribution. We investigate the adequacy of this approximation for profiled loci that mutate according to a generalized stepwise model. Simulations suggest that the Dirichlet theory can still overstate the evidence against a suspect with a common microsatellite genotype. However, Dirichlet-based estimators were less biased than the product-rule estimator, which ignores coancestry.

scholarly journals Short Tandem Repeats Define a Gestational Origin for Metastatic Choriocarcinoma

2019 ◽  
Vol 108 (2) ◽  
pp. e115-e117
Author(s):  
Kelly Brown ◽  
Robert Homer ◽  
Marina Baine ◽  
Justin D. Blasberg
Keyword(s):  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Short Tandem

scholarly journals Sex-Specific Migration Patterns in Central Asian Populations, Revealed by Analysis of Y-Chromosome Short Tandem Repeats and mtDNA

1999 ◽  
Vol 65 (1) ◽  
pp. 208-219 ◽  
Author(s):  
Anna Pérez-Lezaun ◽  
Francesc Calafell ◽  
David Comas ◽  
Eva Mateu ◽  
Elena Bosch ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Migration Patterns ◽  
Asian Populations ◽  
Central Asian ◽  
Short Tandem
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