title: Multiplex PCR Analysis of 17 (11 Novels) STR Markers Linked to Six Autosomal Recessive Intellectual Disability Genes in Iranian Population.
abstract: BACKGROUND
  Non-syndromic autosomal recessive intellectual disability (NS-ARID) is a heterogeneous neurodevelopmental disease. More research is needed to study the NS-ARID genes. Using STR markers linked to a specific gene, we can perform homozygosity mapping and prenatal diagnosis. One approach to investigate the NS-ARID genes in large families is homozygosity mapping. In this study, we surveyed allele frequency and allele heterozygosity of 17 NS-ARID STR markers linked to the six NS-ARID genes in Iranian population.
  
  
  METHODS
  The test group consisted of 120 unrelated healthy individuals. STR markers were designed using SERV software. Also, genotyping was done using multiplex PCR. Data was analyzed by Gene Mapper software. Allele frequency and observed heterozygosity rates were estimated using PowerStatV12. Deviation from the Hardy-Weinberg equilibrium (HWE) was performed based on the Exact test.
  
  
  RESULTS
  Out of 17 STR loci, 11 were novel. In total, 166 alleles were detected for the 17 markers. According to our study, the D9MAN1B1SD7.4, D19S872, D6GRIK2SI1.7, D19TECRSDI.8, D1ST3GAL3SIO.5, and D14ZC3H14SD5.3 STR loci were found to be the most informative and polymorphic STR markers for MAN1B1, ZNF526, GRIK2, TECR, ST3GAL3, and ZC3H14 genes, respectively. We also performed other statistical analyses on these STR markers and found that all of the 17 STRs were polymorphic and met the Hardy-Weinberg equilibrium.
  
  
  CONCLUSIONS
  Finding novel STRs, with high allele heterozygosity, is one of the most significant outcomes of the present study. These findings can be useful for homozygosity mapping, PGD, and PND practices for the NS-ARID.
authors.forename: Ghadami
authors.initials: G
authors.lastname: Shirin
authors.forename: Abiri
authors.initials: A
authors.lastname: Maryam
authors.forename: Zonozi Rishsefid
authors.initials: ZR
authors.lastname: Farideh
authors.forename: Tavakkoly-Bazzaz
authors.initials: TB
authors.lastname: Javad
authors.forename: Zeinali
authors.initials: Z
authors.lastname: Sirous
mesh_terms: D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D005808:Genes, Recessive; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000523:psychology; D007360:Intelligence / Q000235:genetics*; D007492:Iran; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction; D019989:Persons with Intellectual Disabilities; D010641:Phenotype; D011237:Predictive Value of Tests
chemical_list: D005819:Genetic Markers