These alleles segregate and assort into six genotypes, as shown in Table 1. In some instances, offspring can demonstrate a phenotype that is outside the range defined by both parents. In ...
Genetic inheritance
The genotype is the collection of alleles that determine characteristics and can be expressed as a phenotype.
Genetic inheritance
Each gene might have different forms, and these are called alleles. The diagram shows the relationship between the cell, its nucleus, chromosomes in the nucleus, and genes. Chromosomes are found ...
Phenotype Variability: Penetrance and Expressivity
Sometimes, identical genes will produce different expression patterns. Why? Geneticists are now examining the "penetrance" and "expressivity" of genotypes and their phenotypes. In fact, large ...
Speaking the Language of Genetics: A Primer
Genotype: An individual's phenotype is determined, at least in part, by their genotype. A genotype is an individual's genetic constitution (combination of alleles) at a single location on a ...
The ABO Blood Group
while the plus (+) or minus(-) sign gives the person's phenotype on the Rhesus gene. We will ignore Rhesus for now to concentrate on the ABO system. The ABO gene is located near the end of the long ...
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
Here we report the first case to our knowledge of homozygosity in an FSHD patient with a classical phenotype, who inherited two identically sized FSHD alleles from a common ancestor. This patient was ...
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
2 Patients with mixed type cystinuria, who inherit phenotype I and non-I alleles from either parent, have also been described. 3 The institutional review board of the participating centres approved ...
HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis
Studies on both phenotype frequencies and allele frequencies were included. The analysis required knowledge of either the number of individuals or the number of alleles. Therefore, when only ...
Type 2 Gaucher disease: the collodion baby phenotype revisited
This paper details the clinical and molecular characterisation of 6 cases of type 2 Gaucher disease presenting with the collodion baby phenotype. The identified mutant glucocerebrosidase alleles ...
A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus
The risk allele was furthermore associated with occurrence of prothrombotic aPL indicating a possible mechanistic connection between genotype and ICVD phenotype. Our observations imply that STAT4 ...
Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease
Select sequence variations in ABCA4 may confer a specific phenotype. The present data will help in assessing ... with respect to the group with the most data points (≥ two alleles). This normalisation ...
