Genetic and cytogenetic screening of autistic spectrum disorder: Genotype-phenotype profiles

IF 0.8 Q4 GENETICS & HEREDITY Meta Gene Pub Date : 2021-09-01 DOI:10.1016/j.mgene.2021.100924
Arun Meyyazhagan , Balamuralikrishnan Balasubramanian , Haripriya Kuchi Bhotla , Murugesh Easwaran , Sureshkumar Shanmugam , Karthick Kumar Alagamuthu , Vijaya Anand Arumugam , Sasikala Keshavarao , Manikantan Pappusamy
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Abstract

Autism, a pervasive developmental disorder typically characterized by repetitive behaviour, social skills deficit (or a deficit in social communication), speech and language impairments. Our prime focus is to analyze the clinical features and phenotypical behavioural changes using the diagnostic and statistical manual of mental disorders, fourth edition, text revision (DSM IV-TR), and locating the biomarkers associated with specific autistic characters using karyotyping and fluorescence in situ hybridization (FISH) techniques. The prevalence rate of the neurexin 1 (NRXN1) gene polymorphism was also assessed in the current study. The study group involved 196 samples with 98 autistics, and equal age-matched (±2) controls based on their birth order and carrier. The participants include 35.2% males (n = 69) and 14.8% females (n = 29). The autistic and control participants were categorized based on their ages as group I (<12 yrs) with n = 62; males n = 41 (20.9%); females n = 21 (10.7%) and group II (≥12 yrs)-n = 36; males n = 28 (14.2%); females n = 08 (4.08%). Karyotyping was done for autism participants (n = 98) and the results showed that 90% of autistic participants were either the only child or the first child with a low perception and frequency in both the groups. Subsequently, we carried out the FISH assay on participants (n = 37) with higher DSM-IV TR score (≥30). Only 30 FISH tests were negative for subtelomeric deletions with NRXN1 polymorphism genotypic frequency as 62.50%, 25% and 25% for A/A, A/G and G/G genotype respectively. Our study suggests the link between a haplotype with clinical signs of autism for the single nucleotide sequence (SNP rs9636391) and links autistic characters and gene among autistic children according to their birth order, age and gender in India.

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自闭症谱系障碍的遗传和细胞遗传学筛查:基因型-表型谱
自闭症,一种普遍的发育障碍,典型特征是重复行为、社交技能缺陷(或社交沟通缺陷)、言语和语言障碍。我们的主要重点是使用精神障碍诊断和统计手册,第四版,文本修订(DSM IV-TR)分析临床特征和表型行为变化,并使用核型和荧光原位杂交(FISH)技术定位与特定自闭症特征相关的生物标志物。本研究还评估了神经rexin 1 (NRXN1)基因多态性的患病率。研究小组包括196个样本,98个自闭症患者,以及根据出生顺序和携带者年龄匹配(±2)的对照组。参与者中男性占35.2% (n = 69),女性占14.8% (n = 29)。自闭症组和对照组根据年龄分为I组(12岁),n = 62;男性41例(20.9%);女性21例(10.7%),II组(≥12岁)36例;男性28例(14.2%);女性n = 08(4.08%)。对自闭症参与者(n = 98)进行了核型分析,结果显示90%的自闭症参与者要么是独生子女,要么是第一个孩子,两组的感知能力和频率都很低。随后,我们对DSM-IV TR评分较高(≥30)的参与者(n = 37)进行FISH检测。A/A、A/G和G/G基因型的NRXN1多态性亚端粒缺失阳性率分别为62.50%、25%和25%,FISH检测结果为阴性。我们的研究表明,单倍型与自闭症临床症状之间存在单核苷酸序列(SNP rs9636391)的联系,并根据印度自闭症儿童的出生顺序、年龄和性别将自闭症特征和基因联系起来。
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来源期刊
Meta Gene
Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍: Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.
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