The term heterozygous is derived from "hetero," meaning different, and "zygous," meaning related to a fertilized egg, or zygote. Humans are called diploid organisms because they have two alleles at ...
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
In a three generation HFGS family, we have identified a polyalanine tract expansion in HOXA13, the third such expansion to be reported. A girl heterozygous for both mutations has resulted from ...
Scientists Can Analyze Gene Function by Deleting Gene Sequences
After these experiments are complete, only the ES cells that have had one copy of the target gene knocked out remain (Figure 3). These ES cells are heterozygous for the knockout mutation.
test cross
Consequently, a test cross can help determine whether a dominant phenotype is homozygous or heterozygous for a specific allele. Diploid organisms, like humans, have two alleles at each genetic ...
Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure
Interestingly, our case did not have optic nerve hypoplasia or the classical Pelger ... Whole exome sequencing revealed a compound heterozygous variant in the NBAS gene; (p.R517C, c.1549 C>T) ...
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
Although the cause is unknown, genetic and hormonal factors are clearly associated with ICP. Recently, heterozygous mutations of the MDR3 gene have been reported in affected women. The aim of this ...
Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus
She is the fifth patient with heterozygous ornithine transcarbamylase deficiency reported to have had a severe reaction to sodium valproate. Hyperammonaemic encephalopathy should be considered in ...
Sweet Corn Genotypes
Varieties that have just one SE parent are heterozygous, or ‘single SE,’ develop 25% of their kernels with SE traits. Typically a homozygous SE will have better eating quality than a heterozygous SE.
Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease
Including this patient, six patients with BD have existed over four generations in the ... of Japanese familial BD inherited in an autosomal-dominant manner carried a heterozygous C243Y mutation in ...
Laboratory Markers in the Diagnosis of Venous Thromboembolism
Thirty percent of normal individuals have a heterozygous genetic defect without any increase in risk of thrombosis, and if the defect is homozygous, it is thought to contribute to venous thrombosis ...
Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?
Previous report (8) showed that different clinical symptoms in FIC patients may be related to the degree of gene mutation and heterozygous mutations are more common in BRIC1, indicates that HI may ...
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Our findings have a relevant impact on the genetic counselling of these ... suggests that homozygous and compound heterozygous individuals for variants in TRIM63 are at high risk of adverse events.
