cosegregation

cosegregation

(kō-sĕg-grĕ-gā-shun),
A conceptual term often used to mean "tracking" (for example, an allele cosegregating or "tracking" with a disorder).
References in periodicals archive ?
DNA analysis of parents and affected family members was used to verify cosegregation of the identified variants with the phenotype and establish a compound heterozygous state of these variants.
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family
Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findings.
The Polymorphic Analysis of the Human Potassium Channel KCNE Gene Family in Meniere's Disease-A Preliminary Study
Furthermore, the cosegregation of this duplication with the phenotype in the family, in addition to its absence in the normal controls, gives further evidence about the pathogenic nature of the mutation.
Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation
In the current study we recruited two families from Sialkot region of Pakistan which were assessed by whole exome sequencing and cosegregation analysis.
Homozygous Nonsense Mutation in the ASPM Gene Causes MCPH in Consanguineous Pakistani Families
The candidate variant was further confirmed by cosegregation analysis and further functional analysis, including the reverse transcription polymerase chain reaction and Western blot of the proband's muscle.
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure
Cosegregation of blood pressure with angiotensin converting enzyme and atrial natriuretic peptide receptor genes using Dahl salt-sensitive rats.
Animal models of hypertension - revisited
(Leu2587Phe) show cosegregation with FCCX and may exert a function as susceptibility alleles in FCCX families [74].
Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries
The p.Arg201Cys was validated by Sanger sequencing in the patient and all the family members showing a cosegregation of the mutation with the disease.
Genetic Analysis of Undiagnosed Juvenile GMl-Gangliosidosis by Microarray and Exome Sequencing
APOL1 is a neighbor gene presenting very strong cosegregation with MYH9 in African descendants.
Association between MYH9 and APOL1 Gene Polymorphisms and the Risk of Diabetic Kidney Disease in Patients with Type 2 Diabetes in a Chinese Han Population
Among these families, cosegregation was noticed in the mutation genes among the family members (Figures 2 and 3).
Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
Cosegregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing.
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
Variant-Class 5 includes coding sequence variation resulting in a stop codon (nonsense or frameshift), splicing aberration variants by mRNA assay, large genomic deletions or duplications, abrogated mRNA/protein function variants based either on laboratory assays, on evidence for cosegregation with disease, and on MSI tumor, and/or loss of MMR protein expression.
Novel Implications in Molecular Diagnosis of Lynch Syndrome
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