Genes And Genetic Disease - Chapter 4

Front 1

1. The basic unit of inheritance is a _____________

Back 1

Genes

Front 2

2. ___________________ is a subunit of DNA consisting of one deoxyribose molecule, one phosphate group and one base

Back 2

Nucleotide

Front 3

3. True or False DNA directs the synthesis of all of the body’s proteins.

Back 3

True

Front 4

1. __________________________ consists of a double helix twisted ladder of chemical dons and tour types of nitrogenous bases

Back 4

DNA

Front 5

1. DNA molecule (base pairs) specifies  type of animo acid (of 20 types) which combine to make  _________________ (intermediate protein compounds)  proteins

Back 5

Polypeptides

Front 6

1. Some mutations (either duplications or deletions) may have no consequence or profound consequences. Certain areas of some chromosomes have particularly high mutation rates and are known as _____________ _______ _________.

Back 6

Mutational Hot Spots

Front 7

1. Transcription is best defined as a process by which
a. DNA polymerase binds to the promoter site on RNA
b. RNA direct the synthesis of polypeptides for protein synthesis
c. RNA is synthesized from the DNA template in the nucleus
d. A base pair substitution results in a mutation of the amino acid sequence.

Back 7

RNA is synthesized from the DNA template in the nucleus

Front 8

1. ____________________ is the process by which RNA directs the synthesis of polypeptides and this process of protein synthesis occurs in the _______________ (outside of the nucleus)

Back 8

Translation
Ribosome

Front 9

1. Gametes are ______________ cells which means they only have one member of each chromosome pair (total of 23 chromosome)

Back 9

haploid

Front 10

1. Somatic cells are ___________ cells and contain 46 chromosomes (23 pairs – each pair with one from mother & one from father)

Back 10

diploid

Front 11

1. Cells that have the normal number of chromosomes are called ____________ cells; 22 chromosome pairs are homologous in both males and females and are termed autosomes.

Back 11

euploid

Front 12

1. When a cell has more than the diploid number of chromosomes it is said to be a ________________cell.

Back 12

polyploid

Front 13

1. The three most common chromosomes that fail to separate normally (nondisjunction) and result in trisomies are number ________, _________, and ______ chromosomes.

Back 13

13, 18, & 21

Front 14

1. An amniocentesis indicates a neural tube defect when there is an increase in :
a. chorionic protein
b. alpha fetoprotein
c. amniotic protein
d. embryonic protein

Back 14

Alpha Fetoprotein

Front 15

Trisomy 21

Back 15

Down Syndrome

Front 16

Female with extra X chromosomes

Back 16

Turner Syndrome

Front 17

Male with extra X chromosome(s)

Back 17

Klinefelter syndrome

Front 18

Deletion of part of the short arm of chromosome 5

Back 18

Criduchat syndrome

Front 19

Portion of the long arm of the X chromosome (repeats of this section of DNA – the more repeats, the more severe the symptoms)

Back 19

Fragile X syndrome

Front 20

Mental deficits, low nsal bridge, epicanthal folds, protruding tongue, flat/low set ears, transverse palmar crease, hypotonia, cardiat anomalies

Back 20

Down syndrome

Front 21

Sterile female with short stature, webbing of the neck (half the cases), wide spaced mipples, coarctation of the aorta, edema of the fee in newborns, cubitus valgus (reduced carrying angle at the elbow), sparse body hair, impairment of spatial and math reasoning

Back 21

Turner Syndrome

Front 22

Taller than average male, long limbs (joint problems), lower IQ,

Back 22

Klinefelter Syndrome

Front 23

High pitched cry, low birth weight, severe mental retardation, microcephaly, heart defects and facial feature of underdeveloped chin.

Back 23

Criduchat syndrome

Front 24

Second most common cause of mental retardation (after Downs), fewer repeats of the CGC sequence can be mild mental retardation with ADHD, OCD type behaviors.

Back 24

Fragile X syndrome

Front 25

17. The outward appearance of an individual called the _______________is the result of the genotype (composition of genes) and the environment.

Back 25

phenotype

Front 26

A carrier is an individual who has a disease gene but is ________________ normal.

Back 26

phenotypically

Front 27

CF (cystic fibrosis)

Back 27

b. Autosomal recessive

Front 28

Hemophilia

Back 28

c. X-linked recessive

Front 29

Sickle cell disease

Back 29

b. Autosomal recessive

Front 30

Huntington disease

Back 30

a. Autosomal dominant