Postzygotic single nucleotide mosaicisms and autism risk
نویسندگان
چکیده
منابع مشابه
Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
The roles and characteristics of postzygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASDs) remain unclear. In this study of the whole exomes of 2,361 families in the Simons Simplex Collection, we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable parental mosaicism. Ultra-deep amplicon resequencing suggested a validation rate ...
متن کاملThe Single Nucleotide Polymorphisms in the C-reactive Protein Gene: are they Biomarkers of Cardiovascular Risk?
Recent pre-clinical and clinical studies have revealed the C-reactive protein gene (CRP) is related to the degree of acute rise in plasma C-reactive protein (CRP) levels. Moreover, single nucleotide polymorphisms (SNPs) in the CRP gene could associate with increased risk of cancer, atherosclerosis, diabetes mellitus, bowel disease, rheumatoid arthritis, psoriasis, obstructive pulmonary disease,...
متن کاملAssociation between Common Single- nucleotide Polymorphism of Reelin Gene, rs736707 (C/T) with Autism Spectrum Disorder in Iranian-Azeri Patients
Introduction Reelin gene (RELN) codes a large extracellular matrix glycoprotein with serine protease activity and is implicated in the modulation of neuronal signaling, synaptic transmission and plasticity. The reelin plays a fundamental and pivotal role in the development of laminar structures and may be one of the loci contributing to the positive linkage between chromosome 7q and autistic di...
متن کاملMosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
Genomic mosaicism arising from postzygotic mutations has long been associated with cancer and more recently with non-cancer diseases. It has also been detected in healthy individuals including healthy parents of children affected with genetic disorders, highlighting its critical role in the origin of genetic mutations. However, most existing software for the genome-wide identification of single...
متن کاملSingle Nucleotide Polymorphisms and Association Studies: A Few Critical Points
Uncovering DNA sequence variations that correlate with phenotypic changes, e.g., diseases, is the aim of sequence variation studies. Common types sequence variations are Single nucleotide polymorphism (SNP, pronounced snip).SNPs are the third-generation molecular marker. SNP represents a DNA sequence variant of a single base pair with the minor allele occurring in more than 1% of a given popula...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Mutation
سال: 2017
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.23279