Example 2: Both the parents are heterozygous with black hairs as black hair is a dominant allele. The progeny of such parents could produce a homozygous offspring (Table 2). Table 2: Punnett square of progeny from heterozygous genotype parents having black hairs (Bb) Father Mother B b B BB...
Homozygous autosomal dominant hypercholesterolemia in the Neth- erlands: prevalence, genotype-phenotype relationship and clinical outcome. Eur Heart J 2014; Feb 28. (Epub ahead of print).Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche J, Sijbrands EJG, Roeters van Lennep JE, Stalenhoef ...
Abstract AIMS: Homozygous autosomal dominant hypercholesterolaemia (hoADH), an orphan disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9), is characterized by elevated plasma low-density lipoprotein-...
If one has the genotype of Aa, this would make them heterozygous. This means that there is one dominant and one allele. In this case, the dominant... See full answer below.Become a member and unlock all Study Answers Start today. Try it now Create an a...
Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is a common autosomal co-dominant genetic disorder caused by mutations on the SERPINA1 gene (chromosome 14) that may be clinically characterized by lung (emphysema, chronic obstructive pulmonary disease-COPD) and/or liver (cirrhosis) disease. These tw...
Homozygous autosomal dominant hypercho- lesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015;36:560-565.Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, et al. Homozygous autosomal dominant hypercholesterol...