Compound heterozygotes

Compound heterozygotes

Individuals who have one gene in a pair with one mutation and the other gene in the pair has a different mutation.
References in periodicals archive ?
In the study reported today, all three patients were homozygotes or compound heterozygotes for null LPL gene mutations resulting in undetectable LPL activity.
Low DN values normally indicate the A phenotype (DN typically 20-30), which is demonstrated only by homozygotes for the defining Asp70Gly mutation (A/A genotype) or by its compound heterozygotes with a silent variant mutation (A/S genotype)--the silent variant gene product contributing little to the total.
PATHOPHYSIOLOGY OF COMPOUND HETEROZYGOTES INVOLVING HEMOGLOBINOPATHIES AND THALASSEMIAS
Heterozygotes for C282Y, the homozygosity for variant H63D, and the compound heterozygotes of H63D and C282Y also succumb to hemochromatosis with a lower penetrance (Burke et al.
It is also demonstrated that these SE alleles show a dose effect with homozygotic individuals carrying increased risk over heterozygotes and some compound heterozygotes reveal a greater risk indeed, for example, the heterozygous combination of DRB1*0401/*0404 is identified to be strongly associated with early onset and a more severe form of disease than homozygosity for either allele (13, 14).
These milder forms are typically compound heterozygotes, as seen here, with one other reported case being the same [DELTA]F508/D1152H mutation--a 46-year-old nonsmoker presenting with bronchiectasis and recurrent acute respiratory tract infections (14).
Individuals who are compound heterozygotes for a pseudodeficiency allele and a true TSD mutation would appear to be affected using HexA testing, thereby explaining the unaffected adults with HexA deficiency results.
Individuals who are compound heterozygotes for classic galactosemia and the Duarte variant have also been identified.
8,9) The De Caluwe manuscript described 19 AC heterozygotes and 5 SC compound heterozygotes in which Haitian subjects were the least represented and no prevalence data was reported.
5) Compound heterozygotes (n = 15 (11-20) 21 (12-27) 9) (C282Y and H63D alleles) IQR, interquartile range.
As expected, NBs who are Duarte heterozygotes or compound heterozygotes often have GALT activities less than the lower limit of 2 SDs (150 [micro]mol/L).
Discuss why compound heterozygotes involving HbS and either a [beta]-chain hemoglobinopathy or [beta]'-thalassemia are less severe than sickle cell disease but more severe than sickle cell trait.