Gene copy number and variations
Associations of ORMDL1 gene copy number variations with growth traits in four Chinese sheep breeds
... ORMDL1 gene copy number variations: Chaka sheep (CK, n = 300, Haixi state, Qinghai province, China), Hu sheep (HU, n = 198, Pingle town, Mengjin county, Henan province, China), Small-tailed ...
8
Detection of CCND1 gene copy number variations using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization methods
... detection gene amplification of numerous genes including CCND1 in small amounts of DNA fragments derived from formalin-fixed paraffin-embedded material in a single ...CCND1 gene copy number ...
10
SLC26A4 gene copy number variations in Chinese patients with non syndromic enlarged vestibular aqueduct
... SLC26A4 gene, which is the main topic of the current ...SLC26A4 gene in 107 patients with NSEVA who carry one or no mutant allele of SLC26A4 ...any copy number gain or loss in the SLC26A4 ...
6
Analysis of Germline Gene Copy Number Variants of Patients with Sporadic Pancreatic Adenocarcinoma Reveals Specific Variations
... the number of abnormal SNP probe hybridization signals, relative to the HapMap set, ranged from 22,284 to 56,664 (median value 33,621) in patients with sporadic pancre- atic ...the number of common SNPs ...
6
A proteomic approach to investigate the qualitative and quantitative polymorphism of β lactoglobulin in ovine milk: Inference on gene copy number variations
... a gene; 3) the -LG gene is duplicated in the dog and bovine genome; 4) mammary genes are highly conserved across ...for copy-number variants of -LG in ...α-globin gene arrangements in ...
11
Integrated analyses of copy number variations and gene differential expression in lung squamous-cell carcinoma
... no copy number variation has been reported in p63 gene so ...these gene copy number is speculated to have a role in lung SCC ...
8
Variations in CCL3L gene cluster sequence and non specific gene copy numbers
... determine gene copy numbers for the individual samples. The HBB gene that is present at two copies per diploid genome was used to standar- dize the gene copy number ...relative ...
7
An initial comparative map of copy number variations in the goat (Capra hircus) genome
... 70. Dumas L, Kim YH, Karimpour-Fard A, Cox M, Hopkins J, Pollack JR, Sikela JM: Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res 2007, 17:1266-1277. 71. ...
15
Copy number variations and cancer
... C CN NV Vss aan nd d d diisse eaasse e:: m mu uttaab blle e gge en no om me ess The CNV map for the human genome is being continuously refined and has already pinpointed the location, copy number, ...
9
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
... a copy number-stable region of the genome; no deletions of DMXL2 were found in the DGV gold standard variants ...DMXL2 gene con- tains “brain-critical exons” ...this gene observed in their ...
10
Copy number variations of the ATP binding cassette transporter ABCC6 gene and its pseudogenes
... parent gene ABCC6, including the genetic message, the protein level and the function of the ...of copy number variations and transcrip- tion of pseudogenes is generally difficult because of ...
6
Decoding NF1 Intragenic Copy-Number Variations
... Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic re- arrangements, such as non-allelic homologous recombination (NAHR), non-homologous end joining ...
12
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
... 3 copy number variations (CNVs) involving the CNTN4 gene have been reported to be associated with ASD in a few patients without any other classic 3p deletion syndrome phenotype in three ...
9
E2F1 germline copy number variations and melanoma susceptibility
... germline copy number variations (CNVs) have been associated with increased susceptibility to different types of cancer, the aim of our study was to assess germline E2F1 CNV in melanoma ...to ...
5
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders
... this gene is implicated in behavioural disorders such as autistic spectrum disorders, attention-deficit hyperactivity disorders, and Gilles de la Tourette ...the gene suggesting that IMMP2L may act as risk ...
6
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder
... PARK2 gene possibly plays a role in the pathology of devel- opmental anomalies ...the copy number gain may lead to a splicing error; hence, a shorter transcript lacks most of the 3′ end of the PARK2 ...
13
Analysis of copy number variations at 15 schizophrenia-associated loci
... Choice of CNVs for analysis The list of previously implicated CNVs was taken from the largest meta-analysis to date. 14 To this list we added three loci: exon- disrupting deletions at the NRXN1 gene, as there is ...
7
Evaluation of SHOX copy number variations in patients with Müllerian aplasia
... Multiplex ligation-dependent probe amplification (MLPA) The commercial SALSA MLPA kit PO18-E1 SHOX (MRC-Holland, Amsterdam, Netherlands) was used for the amplification reactions according to the manufac- turer’s ...
5
Assessment of copy number variations in the brain genome of schizophrenia patients
... RNaseP gene as an internal DNA dose ...the copy number ratio of the patient’ DNA dosage to that of the control subject’ dosage and compared these ratios between the brain ...the copy ...
9
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
... OMIM gene, NELL1, which is associated with the differentiation of brain cells and the growth, differentiation, and mineralization of ...the number of VOUS remarkably in the ...
7