Translation of "Homozygotie" in English

Inbreeding enhances the homozygosity.

Only when homozygosity is provided, a certain generation as a crossing result can be reproduced repeatedly.

The effect of being homozygote (UGT1A9*3/*3, frequency < 0.1%) is probably more marked, but has not been investigated.

The effect of being homozygote (UGT1A9*3/*3, frequency < 0.1%) is probably more marked, but has not been investigated.

Diagnosis of FCS required documentation of at least one of the following: a) Confirmed homozygote, compound heterozygote, or double heterozygote for known loss-offunction mutations in Type 1-causing genes (such as LPL, APOC2, GPIHBP1, or LMF1)

If, for example, one out of 40 different possible defects was detected (in several multiplex reactions), it is then possible to test for for heterozygosity or homozygosity (using a normal -primer instead of a dideoxy primer).

If the patient is supposed to be homozygous, testing the parents can yield further hints that are important for the human genetic assessment (isodisomy, hemizygosity, compound heterozygosity, etc.).

In conclusion: if you have the case that you report, meaning a patient with the typical symptoms of CF and so far only a homozygoty for RH117-7T is found, there might be the possibility that there is another CF mutation (probably a very rare one) that has not been detected with the used genetic testing.

In case that a person carries on both alleles RH117-7T (homozygoty for RH 117-7T) it can not exactly be predicted what to expect, but it is imaginable to have a similar picture (or even milder) as in cases with a compound heterozygoty for RH-117-7T according to the information above.

The most common mutation leading to this disease is homozygosity for dF508 (genetic defect verifiable on both arms of chromosome 7).

Your case is therefore a combination of mutations with so-called heterozygosity (as opposed to homozygosity).

The compilation according to the invention and/or the method according to the invention therefore surprisingly allow an extremely reliable differential diagnosis in the case of obesity, in particular with respect to homozygosity and heterozygosity in the obesity gene which encodes leptin and mutated leptin respectively, at the protein level, in particular using an immunological test system or immunological test method.

Thus, for example, the compilation according to the invention or the method according to the invention can be used to ascertain whether heterozygosity or homozygosity with respect to mutated leptin is present in a subject, preferably a human.

The present invention relates, according to a further preferred embodiment, to the use according to the invention in the in-vitro determination of homozygosity or heterozygosity with respect to the obesity gene, which encodes mutated leptin and/or non-mutated leptin, of a mammal, preferably a human.

The use according to the invention therefore surprisingly allows, in particular in isolated sample materials, an extremely reliable differential diagnosis in the case of obesity, in particular with respect to homozygosity and heterozygosity in the obesity gene, which encodes leptin and mutated leptin respectively, at the protein level, in particular using an immunological test system or immunological test method.

Direct experiments with HeLa cells showed that said cells were homozygous with regard to the non-mutated A595G genotype and indicated that said person was a homozygous carrier of the wildtype alles—a condition which was only found in 6.69% of the Swiss inhabitants collective.

However, since for technical/methodical reasons there is a small risk that only the information of one CFTR gene becomes visible, international guidelines recommend to double check the homozygosity diagnosis by an analysis of the parents, who should then be heterozygous.

Should your niece really be affected by CF, it would have to be caused by homozygosity for another mutation or by compound homozygosity for two other mutations.

There are, however, a lot of disadvantages connected to homozygosity, for example low vigor and thus low seed yields.

In the case of autosomal recessive diseases, the lowercase letters indicate the genes that in homozygosity give the disease.

The chance of NAIT/FAIT recurring in subsequent pregnancies is between 50% and 100% depending on whether the paternal antigen is hetero- or homozygous.

If two identical alleles occur, this is called homozygosity. The TCF7L2 gene also appears in different variants, some of which are associated with an increased risk of type 2 diabetes.

In the absence of high iron values (transferrin saturation and ferritin normal) but C282Y homozygote, then there is an asymptomatic mutation, that is, despite the gene mutation there is no iron overload. It is estimated that only about 50% of patients with the mutation absorb too much iron.