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Background: Thalassemia, as the most common single-gene genetic disorder, is related to a defect in the synthesis of one or more hemoglobin chains. More than 200 mutations have been identified in the ß-globin gene. Globally, every susceptible racial group has its own specific spectrum of the common mutations that are well-known to a particular geographic region. On the other hand, varying numbers of diverse rare mutations may occur. Materials and Methods: The subjects of the study included 2113 heterozygote or homozygote ß-thalassemia cases selected among couples who participated in the Iranian national thalassemia screening program from January 2011 to November 2019. Molecular characterization of the ß-thalassemia mutation was initially carried out by the amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR) technique for common mutations, followed by sequencing, Gap PCR, and Multiple ligation-dependent probe amplification (MLPA) methods - in cases not detected by the ARMS-PCR. Results: The existence of 39 rare and new point mutations and 4 large deletions were described in our cohort. Sicilian (-13,337bp) deletion, CD36/37 (-T), and CD15 TGG>TGA were encountered more often than the others in a decreasing order, in terms of frequency. The least frequent mutations/deletions were deletion from HBD exon 1 to HBB promoter, 619 bp deletion, Deletion from up HBBP1-Exon3 HBBP1 and up HBB-0.5Kb down HBB, CAP+8 C>A, CD37 (G>A), CD6 (-A), IVSI-2 (T>C), IVSII-705 T>G, and IVSII-772 (G>A). Each occurred once. Five mutations/variants were also determined which have not been reported previously in Iran. Conclusion: According to the findings of the study, the Northwestern Iranian population displayed a wide variety of thalassemia allelic distributions. Identification of rare and new mutations in the ß-thalassemia in the national population is beneficial for screening programs, genetic counseling, and prenatal diagnosis.
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BACKGROUND: Currently no data exist on the acquisition of speech sounds in Azeri Turkish-speaking children in Iran. This investigation was conducted to describe phonological development in Azeri Turkish-speaking children. METHODS: A total of 120 typically developing Azeri Turkish-speaking children within the age range of 3;0 to 4;11 years were recruited. They were asked to name pictures in the Azeri Turkish Speech Test and their productions were analyzed to determine consonant acquisition, Percentage of Consonants Correct (PCC), Percentage of Vowels Correct (PVC), and Whole Word Proximity (WWP) according to sex and age. In addition, PCC values in terms of consonant position in the syllable (syllable-initial and syllable-final), and manner of articulation were calculated. RESULTS: For consonant acquisition, they mastered all consonants except [d, dÍ¡z, tÍ¡s, Ê, v, É] by 4;11 years of age. PCC values increased with increasing age (H(3)= 67.212, p <0.001). In terms of manner of articulation, PCC showed that nasals were most accurately produced and trill sound least accurate. The effect of sex on PCC values was not significant U (Nmales =60, Nfemales =60)= 1686.5, z = -0.600, p=.54). WWP values were also found to increase in older children H(3)=46.94, p<.001). Similarly, the effect of sex on WWP values was not significant U (Nmales =60, Nfemales =60)= 1782.5, z = -0.09, p=.92). CONCLUSIONS: Children acquiring speech sounds in the Azeri Turkish language show some similar tendencies to children acquiring other languages but are also different. Findings of the present research describe phonological development in Azeri Turkish-speaking children, which has not been documented before.
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Lenguaje , Fonética , Niño , Preescolar , Femenino , Humanos , Irán , Desarrollo del Lenguaje , Masculino , Habla , Medición de la Producción del HablaRESUMEN
Due to the lack of appropriate tests for the assessment of speech sounds of Azeri Turkish speaking children, the present study aimed to develop and validate a single word test. A total of 150 typically developing children were recruited in the study (30 children for investigating the name agreement and 120 children to establish construct validity). In the first step, a test with 31 items was developed in terms of suggested criteria in the literature including word frequency, word length, syllabic structure, familiarity, and picturability of words. Then, we asked the expert panel's opinion for the test items. The value of the content validity ratio for each target word was 1.00 except for one item. To administer the test, we asked the participants to name images. Name agreement of the items was determined through administrating the test. The percentages for the indices of name agreement were 87.68 and 0.17, respectively. The findings of the item-by-item test-retest and inter-rater reliability showed satisfactory values in terms of consonants in the initial and final positions. Also, the value of the internal consistency was calculated to be kr = 0.78 (p < 0.001). The psychometric properties of this scale with 31 items proved that it is appropriate for quantifying the speech sound production in Azeri Turkish typically developing children.
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Fonética , Habla , Niño , Humanos , Lenguaje , Psicometría , Reproducibilidad de los ResultadosRESUMEN
Alzheimer's disease is considered a progressive brain disease in the older population. Late-onset Alzheimer's disease (LOAD) as a multifactorial dementia has a polygenic inheritance. Age, environment, and lifestyle along with a growing number of genetic factors have been reported as risk factors for LOAD. Our aim was to present results of LOAD association studies that have been done in northwestern Iran, and we also explored possible interactions with apolipoprotein E (APOE) status. We re-evaluated the association of these markers in dominant, recessive, and additive models. In all, 160 LOAD and 163 healthy control subjects of Azeri Turkish ethnicity were studied. The Chi-square test with Yates' correction and Fisher's exact test were used for statistical analysis. A Bonferroni-corrected p value, based on the number of statistical tests, was considered significant. Our results confirmed that chemokine receptor type 2 (CCR2), estrogen receptor 1 (ESR1), toll-like receptor 2 (TLR2), tumor necrosis factor alpha (TNF α), APOE, bridging integrator 1 (BIN1), and phosphatidylinositol-binding clathrin assembly protein (PICALM) are LOAD susceptibility loci in Azeri Turk ancestry populations. Among them, variants of CCR2, ESR1, TNF α, and APOE revealed associations in three different genetic models. After adjusting for APOE, the association (both allelic and genotypic) with CCR2, BIN1, and ESRα (PvuII) was evident only among subjects without the APOE ε4, whereas the association with CCR5, without Bonferroni correction, was significant only among subjects carrying the APOE ε4 allele. This result is an evidence of a synergistic and antagonistic effect of APOE on variant associations with LOAD.
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Enfermedad de Alzheimer/genética , Enfermedades de Inicio Tardío/genética , Polimorfismo de Nucleótido Simple , Proteínas Adaptadoras Transductoras de Señales/genética , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/epidemiología , Apolipoproteína E4/genética , Apolipoproteínas E/genética , Receptor alfa de Estrógeno/genética , Etnicidad/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Irán/epidemiología , Enfermedades de Inicio Tardío/epidemiología , Masculino , Modelos Genéticos , Proteínas de Ensamble de Clatrina Monoméricas/genética , Herencia Multifactorial , Proteínas Nucleares/genética , Receptores CCR2/genética , Receptor Toll-Like 2/genética , Factor de Necrosis Tumoral alfa/genética , Proteínas Supresoras de Tumor/genéticaRESUMEN
Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual disability, and abnormal electroencephalograms. Afflicted females show normal development until the age of 6 to 18 months, followed by gradual loss of speech abilities, microcephaly, social impairment, ataxia, and stereotypic hand movements. We report a 7-year-old girl who was born of a nonconsanguineous marriage presenting with mental retardation and delayed development. Physical examination revealed loss of speech, repetitive hand-wringing movement, short stature (120 cm), strabismus, microcephaly, and autistic behavior. The diagnosis was confirmed by sequencing MECP2 gene with heterozygous mutation C385A in exon 2. The current study aimed to report the first case of Rett syndrome in the Azeri Turkish population.
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Hemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited from the Azeri Turkish population of northwest Iran and analyzed for BclI and HindIII markers by polymerase chain reaction-restriction fragment length polymorphism. We investigated the potential of using these markers for the detection of mutation in carriers through linkage analysis, which would be of tremendous use in prenatal diagnosis. Among the tested women, 47% and 35% were found to be heterozygous for BclI and HindIII polymorphic markers, respectively. The BclI and HindIII markers were informative for the detection of 63% and 17% potential carriers, respectively, demonstrating the effectiveness of the BclI marker for the detection of HA carriers among the Azeri Turkish population.