Deletions (dashes) and insertions (green lower case) are indicated relative to WT sequence (first line). (b,c) Primers used to amplify the region around the ban target site (b), and results of PCR in wild type (WT), homozygous (HZ) and heterozygous (HET) mutants are shown (c). (...
The real-time PCR-HRM is a simple yet accurate method to detect wild-type, heterozygous and homozygous mutations. Furthermore, all these in-house methods can detect all the mutations within the selected codons in the gene. Table 3. Common molecular diagnostic methods of the genes relevant for...
Diet-induced atherosclerosis in mice heterozygous and homozygous for apolipoprotein E gene disruption. J Clin Invest 1994; 94: 937–45. 10.1172/JCI117460Search in Google Scholar PubMed PubMed Central 31 Ishibashi S, Brown MS, Goldstein JL, Gerard RD, Hammer RE, Herz J. Hypercholesterolemia in...
et al. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet 362, 1714–1719 (2003). Article CAS PubMed Google Scholar Yuan, L., Liu, J. G., Zhao, J., Brundell, E., Daneholt, B. & Hoog, C. The murine SCP3 gene is required for synaptonemal complex assembly, ...
Mice heterozygous for the hPXR transgene were interbred to generate a homozygous line. For the present study, the homozygous status of hPXR-TG mice was confirmed by breeding for multiple generations and all litters were tested positive for hPXR-TG by PCR genotyping (data not shown). All ...
These errors are multicausal and illustrate the challenges encountered in analysis of large-scale sequencing studies or diverse breeds. For example, the genotype of a female village dog from Azerbaijan was heterozygous for the chrX variant, NSDHL:c.700G > A (p.Gly234Arg). The same ...
Another striking result (same residue) came from the analysis of APP in a set of whole-genome sequence data from 1795 Icelanders that resulted in the discovery that the A2T mutation is able to protect against AD in both heterozygous and homozygous carriers [106]. The English familial disease ...
Zhang, S.H.; Reddick, R.L.; Burkey, B.; Maeda, N. Diet-induced atherosclerosis in mice heterozygous and homozygous for apolipoprotein E gene disruption.J. Clin. Investig.1994,94, 937–945. [Google Scholar] [CrossRef] [PubMed]
In simple genetics, alleles can be homozygous or heterozygous.Homozygousrefers to having two copies of the same allele, whileheterozygousrefers to having different alleles. Dominant Traits vs. Recessive Traits When alleles are expressed via simple dominant versus recessive traits, the specific alleles in...
Clinical AITL samples do not show variations in the ring finger and CCCH-type domain 1 (RC3H1/ROQUIN) [92]; nonetheless, mice heterozygous for the Roquin missense allele Roquinsan develop AITL-like lymphoma with an approximately 50% penetrance [93]. Roquin is an RNA-binding ring-type ubiquiti...