genetics

Question 1

present at birth, inherited, genetic or developmental defects due to damage in utero

Answer 1

congenital

Question 2

consequence of gene changes to the 23 chromosomes in each cell

Answer 2

genetic

Question 3

abnormal or dislocation of chromosomes

Answer 3

chromosomal

Question 4

damage to body structures during development or shortly after birth

Answer 4

developmental

Question 5

combo of genetic predisposition and exposure

Answer 5

multi-factorial

Question 6

DNA storage unit, threadlike strands of DNA wrapped around protein in each cell nucleus which transmits genetic info

Answer 6

chromosome

Question 7

code for cells to make protein molecules. 2 copies of each

Answer 7

genes

Question 8

DNA sequence of a particular gene that occupies a given location on a chromosome. Dominant and recessive.

Answer 8

allele

Question 9

an individual’s collection of genes, genetic make up or allele combination. Refers to the 2 alleles inherited for a particular gene

Answer 9

genotype

Question 10

the expression of the genotype contributes to the individual’s observable traits

Answer 10

phenotype

Question 11

the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself

Answer 11

epigenetics

Question 12

A male child receives the __ chromosome from his mother and a __ chromosome from his father

Answer 12

• X

- Y

Question 13

A female child receives a __ chromosome from each parent

Answer 13

X

Question 14

• occurs when one gene is sufficient to express a trait
• masks the presence of a recessive gene
• can be inherited from a single parent

Answer 14

dominant trait

Question 15

• expressed only when two copies of the gene are present

- seen only in the absence of the dominant gene

Answer 15

recessive trait

Question 16

examples of autosomal dominant diseases (3):

Answer 16

• Huntington’s Disease
• Osteogenesis Imperfecta
• Marfan’s Syndrome

Question 17

autosomal dominant disease:

• 50/50 chance of inheriting from parent
• symptoms start in 30s-40s
• 10-20 yr life span after Dx
• genetic testing available

Answer 17

Huntington’s Disease

Question 18

autosomal dominant disease:

• brittle bones
• rare congenital disorder of collagen synthesis
• 25% no family history, spontaneous gene mutation
• wide range of presentations; shortened stature, thin skin, joint hypermobility

Answer 18

osteogenesis imperfecta

Question 19

examples of autosomal recessive genes

Answer 19

• spinal muscular atrophy
• sickle cell anemia
• cystic fibrosis

Question 20

both parents pass on defective gene to a homozygous (2 recessive genes) child has + genotype and + phenotype.

One parent passes on 1 defective gene to a heterozygous child who is a carrier

Answer 20

autosomal recessive disease occurrence

Question 21

autosomal recessive disease: progressive atrophy of skeletal muscles and respiratory insufficiency/hypoventilation

Answer 21

spinal muscular atrophy

Question 22

autosomal recessive disease:

• most common genetic inherited disease in the US
• disease of pancreas - leads to altered production by mucous membranes
• defective gene and protein on chromosome 7

Answer 22

cystic fibrosis

Question 23

autosomal recessive diseases:

• 1 in 12 African-Americans carry gene for disease
• disease of RBC’s, unable to transport hemoglobin

Answer 23

sickle-cell anemia

Question 24

• chromosomes either break or fail to separate during gamete formation.
• more common when mother is over age of 35
• not inherited

Answer 24

chromosomal diseases

Question 25

extra chromosome:

• non-disjunction occurs
• chromosome pair doesn’t separate during gamete formation

Answer 25

Trisomy

Question 26

a disorder that is caused by 1 abnormal gene. results of genetic mutation, change in 1 gene in reproductive cells, then mutation is passed on to future generations.

Answer 26

Single Gene Disorders

Question 27

inherited dominant allele carried on X chromosome

Answer 27

X-linked dominant chromosome

Question 28

a trait transmitted by a gene located on the x chromosome; also called sex-linked

Answer 28

X-linked recessive traits

Question 29

disease caused by a variation or mutation of a gene

Answer 29

genetic disorder

Question 30

any anomaly present at time of birth, regardless of cause (ie. infection, malnutrition, genes or drug exposure

Answer 30

congenital