11.3-11.4 Flashcards
What is an autosome?
Any chromosome other than a sex chromosome (X or Y)
When is a genetic disorder autosomal dominant and recessive?
When the normal allele is recessive (dominant)
When the normal allele is dominant (recessive)
What is a pedigree (male vs female)?
Shows pattern of inheritance
Males: square Female: Circle
What are carriers?
Parents that do not display the trait but are capable of having a child with that trait
What is consanguineous reproduction and how does it affect the chances of receiving a recessive allele?
Inbreeding; increases chances of receiving two copies of recessive allele
Pedigree: Difference between autosomal dominant and recessive.
Dominant: every generation
Recessive: skips generation
Both: Males and females affected equally
Methemoglobinemia: Type of disorder, What is it, What side effects, What chromosome?
Autosomal recessive (relatively harmless)
unable to convert methemoglobin back to hemoglobin
Blue skin (from blue protein)
Chromosome 22
Cystic Fibrosis: Type of disorder, What is it, What side effects, What chromosome?
Autosomal recessive (Lethal)
Mucus in bronchial tubes and pancreatic ducts thick and viscous
Prevent digestive enzymes from reaching small intestine
Chromosome 7- CFTR allele (defective chloride ion channel)
Individuals who are heterozygous have increase level of protection against diseases
Phenylketonuria: Type of disorder, What is it, What side effects, Caused by…?
Autosomal recessive metabolic disorder that affects nervous system development
Lack enzyme needed for normal metabolism (of amino acid phenylalanine)
May cause serious intellectual disabilities if no diet
Osteogenesis Imperfecta: Type of disorder, What is it, What side effects, Caused by…?
Autosomal Dominant Genetic Disorder
Weak bones
Caused by mutations in two genes necessary for the synthesis of type I collagen (protein)
Huntington Disease: Type of disorder, What is it, What side effects, What chromosome?
Autosomal Dominant neurological disorder
Leads to progressive degeneration of brain cells
Mutated copy of gene for huntingtin (protein)- too many copies of glutamine (amino acid)
Normal until middle age (death comes 10-15 years later(
Chromosome 4
No cure
Hereditary Spherocutosis: Type of disorder, What is it, What side effects, What chromosome?
Autosomal Dominant genetic blood disorder
defective copy of ankyrin-1 gene on Chromosome 8
Red blood cells spherical not disk-like shape
Usually result from new mutations (not inherited from either parent)
incomplete penetrance
What happens when a trait is controlled by multiple alleles?
The gene exists in several allelic forms within a populations (Ex ABO blood type~ Single gene pair, three possible alleles)
What is codominance?
Inheritance pattern where both alleles of a gene are equally expressed in a heterozygote (Ex AB Blood type with both A and B antigen on red blood cells)
What is incomplete dominance?
Exhibited when a heterozygote has an intermediate phenotype (Ex. familial hypercholesterolemia/cholesterol)
