MMSC491 Exam 2 Questions and Answers 2024 With Complete Solutions Graded A

phenotype - the set of observable characteristics of an individual resulting from the interaction of its genotype genotype - the genetic constitution of an individual organism homozygous - having two identical alleles of a particular gene or genes heterozygous - having two different alleles of a particular gene or genes compound heterozygote - The presence of two different mutated alleles at a particular gene locus example of compound heterozygote - Tay-Sachs disease, GM2-gangliosidosis, AB variant, and Sandhoff disease might easily have been defined together as a single disease, because the three disorders are associated with failure of the same enzyme and have the same outcome dominant - dominance is the phenomenon of one variant of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome example of dominance - V-shaped hairline, Almond-shaped eyes, Right handedness, Detached earlobes, Dark hair Brown eyes, baldness recessive - Refers to a trait that is expressed only when genotype is homozygous; a trait that tends to be masked by other inherited traits, yet persists in a population among heterozygous genotypes examples of recessive - Cleft chin, dimples, freckles, Straight hairline, Round eyes, Left handedness, Attached earlobes, Blond hair, red hair, Blue eye co-dominant - refers to a type of inheritance in which two versions (alleles) of the same gene are expressed separately to yield different traits in an individual example of co-dominance - blood type. People with the AB blood type have one A allele and one B allele. Because both alleles are expressed at the same time, their blood type is AB. pedigree - a diagram that shows the occurrence and appearance of phenotypes of a particular gene or organism and its ancestors from one generation to the next sib - sibling male - square female - circle sex unstated - diamond autosomal dominant - Autosomal dominant inheritance is a way a genetic trait or condition can be passed down from parent to child. One copy of a mutated (changed) gene from one parent can cause the genetic condition. A child who has a parent with the mutated gene has a 50% chance of inheriting that mutated gene. example of autosomal dominant - Huntington's disease autosomal recessive - You inherit two changed genes (mutations), one from each parent. example of autosomal recessive - cystic fibrosis, sickle cell anemia, and Tay-Sachs disease consanguineous - relating to or denoting people descended from the same ancestor, A feature of many recessive disorders carrier - is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease, can pass on allele to offspring x-linked recessive - most often occurs in males, no male-to-male transmission, Female carriers with a single mutant allele can occasionally be quite severely affected and are known as manifesting heterozygotes x-linked dominant - more often occurs in females, All children born to an affected mother have a 50% chance of being affected, An affected father with a single X chromosome will consistently have unaffected sons (but daughters will always be at risk because they will always inherit his affected X y-linked - if the altered gene that causes the disorder is located on the Y chromosome, one of the two sex chromosomes in each of a male's cells. Because only males have a Y chromosome, in Y-linked inheritance, a variant can only be passed from father to son, Rare because of the lack of genes on Y chromosome autosomal dominant pedigree -