RRD #1 Genetic Influence in Disease

Question 1

a disease caused by abnormalities in an individual’s genetic material

Answer 1

genetic disorders

Question 2

name to major way in categorizing genetic disorders

Answer 2

inherited and “spontaneous”

others include: mitochondrial DNA, multifactorial, chromosomal, single-gene

Question 3

what type of disorders is sickle cell disease caused by

Answer 3

inherited genetic disorders due to an altered (mutated) gene

Question 4

high level of exposure to radiation causes a mutation in a gene -> becomes an “oncongene” which causes rapid, wild proliferation of cell growth -> skin cancer develops

Answer 4

spontaneous genetic disorder

Question 5

what disorder is : majority of DNA is found in nucleus of cells but small bits of DNA are also found in mitochondria. Disorder of this DNA are very uncommon

Answer 5

Mitochondrial DNA disorders

Question 6

combination of environmental triggers and variations/mutation of genes, plus sometimes inherited tendencies; example:

smoking -> irritates bronchial tissue -> oncogenes created -> code for wild, uncontrolled growth of cells

Answer 6

multi-factorial genetic disorders

Question 7

any influence - eg, drugs, radiation, viruses– that can cause congenital defects

Answer 7

teratogenic disorders

example: born with abnormal arms and legs due to mothers taking the drug thalidomide for nausea during early pregnancy

Question 8

are abnormalities that are either detectable at birth and/or can be attributed to feal development “glitches”

Answer 8

congenital defects

example: fetal alcohol syndrome (FAS) occurs because toxicity of alcohol causes gene mutation during gestational development

Question 9

a type of genetic disorder that results from alterations to the numbers of structure of a chromosome, which in turns alters the “local” genes (genes in the immediate area)–the genes’ functionality is disrupted and they don’t code proteins correctly, giving rise to the phenotype (S&S) of the disorder

Answer 9

Chromosomal disorders (aka, chromosomal aberration)

Question 10

alteration to NUMBERS of chromosomes is called

more than the usual numbers of chromosomes

Answer 10

aneuploidy = polysomy meaning poly = more than one, -somy meaning aneuploidies

example: down syndrome - having an extra chromosome (aka trisomy 21, )

Question 11

disorder are usually due to an inherited mutated gene

example; gene mutates so that is protein product can no longer carry out its normal function, a disorder can result

Answer 11

single-gene disorders

Question 12

single-gene disorders are inherited in recognizable patterns called:

Answer 12

autosomal, recessive, autosomal dominant, and sex-linked

Question 13

disorder occurs when a mutated (“diseased”), recessive (weak) gene partners up with an allele that is also recessive & diseased; those alleles are noted with two lower-case letters.

Answer 13

autosomal recessive disorder

Question 14

a person who has a ss genotype will HAVE the disease such as sickle cell anemia -

Answer 14

Phenotype

ie, their phenotype is having the S&S caused by the above genotype and patho development