DETECTION OF INHERITED DISEASES

Question 1

A DNA sequence change that is present in a relatively small proportion of a population is a ___

Answer 1

mutation

Question 2

___ are casually considered mutations that do not severely affect phenotype.

Answer 2

Polymorphisms

Question 3

located within genes or outside of genes.

Answer 3

Sequence polymorphisms

Question 4

useful for mapping disease genes, determining parentage, and identity testing.

Answer 4

Benign polymorphisms

Question 5

can have offsetting phenotypes.

Answer 5

Balanced polymorphisms

Question 6

do not change the primary DNA sequence.

Answer 6

Epigenetic alterations

Question 7

usually alterations of cytosine in CpG islands; mostly downregulates RNA transcription.

Answer 7

DNA methylation

Question 8

selectively inactivates chromosomal regions (e.g., X chromosome inactivation).

Answer 8

Genomic imprinting

Question 9

Diseases with genetic components are often referred to as ___ (“born with”) diseases.

Answer 9

congenital

Question 10

two or more genetically distinct populations of cells from one zygote in an individual;

Answer 10

Mosaicism

Question 11

different zygotes in an individua two or more genetically distinct cell populations froml), results from mutation events affecting somatic or germ cells.

Answer 11

Chimerism

Question 12

via blood transfusion, organ, stem cell, and bone marrow transplantation.

Answer 12

Artificial chimerism

Question 13

via trans placental passage of second cell line

Answer 13

Twin/multiple gestations

Question 14

via fusion of two fertilized zygote

Answer 14

Tetragametic

Question 15

is a diagram of the inheritance pattern of a phenotype of family members.

Answer 15

pedigree

Question 16

alternative forms of a gene that occupy a specific locus on a specific gene

Answer 16

Allele

Question 17

having two different alleles for a given gene

Answer 17

Heterozygous

Question 18

having two identical alleles for a given gene

Answer 18

Homozygous

Question 19

pattern of inheritance that corresponds to the equal, distinct, and simultaneous expression of two different alleles

Answer 19

Codominance

Question 20

describes a trait that is expressed both in homozygous and heterozygous form

Answer 20

Dominant

Question 21

describes a trait that is only expressed in homozygous form and is masked in heterozygous form

Answer 21

Recessive

Question 22

heterozygous individual who does not display symptoms of a recessive genetic disorder but can transmit the disorder that corresponds to the equal, distinct, and simultaneous expression of two different to his or her offspring

Answer 22

Carrier

Question 23

in humans, the 22 pairs of chromosomes that are not the sex chromosomes (XX or XY)

Answer 23

autosomal chromosome

Question 24

pattern of dominant inheritance that corresponds to a gene on one of the 22 autosomal chromosomes

Answer 24

autosomal dominant

Question 25

pattern of recessive inheritance that corresponds to a gene on one of the 22 autosomal chromosomes

Answer 25

autosomal recessive

Question 26

pattern of inheritance in which an allele is carried on the X chromosome of the 23rd pair

Answer 26

X-linked

Question 27

pattern of dominant inheritance that corresponds to a gene on the X chromosome of the 23rd pair

Answer 27

X-linked dominant:

Question 28

pattern of recessive inheritance that corresponds to a gene on the X chromosome of the 23rd pair

Answer 28

X-linked recessive

Question 29

a disease that induces tumor formation within the nervous system that leads to skin and skeletal deformities.

Answer 29

Neurofibromatosis type I

Question 30

characterized by the chronic accumulation of a thick, tenacious mucus in the lungs and digestive tract; blood disorder sickle-cell anemia, the fatal neurological disorder Tay–Sachs disease, and the metabolic disorder phenylketonuria.

Answer 30

Cystic fibrosis (CF)

Question 31

transmission pattern involves genes located on the X chromosome of the 23rd pair.

Answer 31

X-linked

Question 32

Trisomy 21, 47,XY, + 21

Answer 32

DOWN SYNDROME

Question 32

Trisomy 18 (47,XY,+18)

Answer 32

EDWARD SYNDROME

Question 33

Trisomy 13, 47,XY, +13

Answer 33

PATAU SYNDROME

Question 34

47XXY karyotype in 82% of cases.

Answer 34

KLINEFELTER SYNDROME

Question 35

45, X and variants – X0

Answer 35

TURNERS SYNDROME

Question 36

XYY syndrome (47,XYY)

Answer 36

JACOB’S SYNDROME

Question 37

47,XXX; 48,XXXX

Answer 37

MULTI X FEMALES