MODULE-11-Human-Genetics

Question 1

To determine the pattern of inheritance of man’s traits, the construction of family
history is performed.

Answer 1

Pedigree Analysis

Question 2

It is a diagram that displays the family history of a certain trait. The affected individual whom the pedigree is discussed is called the

Answer 2

proband

Question 3

The information from a pedigree makes it possible to determine how certain alleles are inherited: whether they are

Answer 3

dominant
recessive
autosomal
sex-linked

Question 4

will not skip a generation.

Answer 4

Dominant traits

Question 5

neither parent is required to have the trait since they
can be heterozygous

Answer 5

recessive traits

Question 6

males are much more commonly affected than females

Answer 6

X-linked recessive traits

Question 7

both males and females are equally likely to be affected

Answer 7

autosomal traits

Question 8

Common pattern of inheritance in man 5

Answer 8

Autosomal dominance
Autosomal recessive
Sex-linked dominance
Sex-linked recessive
Sex-influenced

Question 9

The trait for this type of inheritance never skips a generation

Answer 9

Autosomal dominance

Question 10

Marriage between 2 affected individuals produce affected offspring

Answer 10

Autosomal recessive

Question 11

Affected male with unaffected wife transmit the trait to daughter only

Answer 11

Sex-linked dominance

Question 12

Affected female with unaffected husband transmits the trait to sons only; the daughters
serve as carrier of the trait

Answer 12

Sex-linked recessive

Question 13

Gene exhibits high penetrance or expressivity in one sex

Answer 13

Sex-influenced

Question 14

One mutated copy of the gene in each cell is sufficient for a person to be affected by an BLANK. In some cases, an affected person inherits the
condition from an affected parent.

EX - Huntington disease
Marfan syndrome

Answer 14

Autosomal dominant disorder

Question 15

both copies of the
gene in each cell have mutations.

EX - Cystic fibrosis
Sickle cell disease

Answer 15

Autosomal
recessive

Question 16

disorders are caused by mutations in
genes on the X chromosome, one of the two sex
chromosomes in each cell

EX - Fragile X syndrome

Answer 16

X-linked
dominant

Question 17

disorders are also caused by
mutations in genes on the X chromosome.

EX - Hemophilia

Answer 17

X-linked
recessive

Question 18

if the mutated gene
that causes the disorder is located on the Y
chromosome, one of the two sex chromosomes in each
of a male’s cells.

EX - Y chromosome
infertility

Answer 18

Y-linked

Question 19

two different versions
(alleles) of a gene are expressed, and each version
makes a slightly different protein.

EX -ABO blood group
alpha-1 antitrypsin
deficiency

Answer 19

Co-dominant

Question 20

also known as maternal
inheritance, applies to genes in mitochondrial DNA

EX - Leber hereditary
optic neuropathy

Answer 20

Mitochondrial DNA inheritance

Question 21

have a total of 46 chromosomes (2n), 22 paired body chromosomes and two
sex chromosomes.

Answer 21

Humans

Question 22

It has been found that around 4% of local clinically recognized pregnancies carry some form of trisomy.

Answer 22

Autosomal Aneuploidy

Question 23

Among the most common trisomy are

Answer 23

trisomy-21 (Down Syndrome)

trisomy–18 (Edward Syndrome)

trisomy – 13 (Patau Syndrome)

Question 24

The name is derived from the name of a British physician who first
described the syndrome in 1866.

Answer 24

J. Langdon Down

Question 25

John H. Edwards and his associates first described this syndrome in 1960. The affected child is found to be trisomic for chromosome 18.

Answer 25

Edward’s Syndrome

Question 26

is very rare.. It involves chromosomes 13, 14, and 15. This syndrome was first described by the group of Klaus Patau. A baby with missing chromosome 13 found out to have multiple malformations.

Answer 26

Patau syndrome Syndrome

Question 27

results from the deficiency of the short arm of chromosome 5, which is due to the translocation of B/G and B/D chromosome groups.

Answer 27

Cri-du-chat Syndrome

Question 28

deletion of a small segment of chromosome X, involving the genes for the synthesis of dystrophin.

Answer 28

Muscular dystrophy

Question 29

is a complex of protein that work together to strengthen muscle fibers and protect them from injury as muscles contract and relax.

Answer 29

Dystrophin

Question 30

Recipocal translocation involving chromosomes 2 and 20

Answer 30

Robertsonian translocation

Question 31

translocation involving chromosomes 9 and 22

Answer 31

Philadelphia syndrome

Question 32

e is a component of lactose, which is not required in normal human development but can be used as energy source.

Answer 32

Galactosemia

Question 33

An inborn error of metabolism that renders an individual unable to hydroxylate phenylalanine to tyrosine

Answer 33

Phenylketonuria

Question 34

is a hereditary abnormality that is due to errors on melanin synthesis. It is characterized by congenital reduction or absence of melanin pigment due to errors in the production of melanin from tyrosine

Answer 34

Albinism

Question 35

Group of disorders that affect hemoglobin

Answer 35

Sickle Cell Disease

Question 36

Behavioral Genetics 7

Answer 36

 Schizophrenia  Eating Disorders  Drug Addiction  Mood Disorders  Intelligence Alcoholism Criminality

Question 37

Characterized by cleavage of personality, and loss of ability to organize thoughts and perception.

Answer 37

Schizophrenia

Question 38

can be in the form of anorexia or bulimia.

Answer 38

Eating disorder

Question 39

characterized by compulsive behavior of seeking and taking a drug despite of its known adverse effects

Answer 39

Drug addiction

Question 40

more common in women; chronic depression interspersed with acute episodes

Answer 40

Mood disorders

Question 41

foundation of rational behavior not a well-defined characteristic

Answer 41

Intelligence

Question 42

Studies showed that more alcoholics are color blind. Alcoholism is an X-linked recessive trait

Answer 42

Alcoholism

Question 43

A behavioral disorder that can be strongly inherited

Answer 43

Criminality

Question 44

The name is derived from the name of a British physician (J. Langdon Down) who first described the syndrome in 1866.

Answer 44

Down Syndrome

Question 45

With multiple malformations; Low- set ears, small lower jaw, clenched fingers, deformed skull, face, feet

Answer 45

Edward Syndrome

Question 46

with sloping forehead, harelip, palate, deformed face polydactyly present markedly mental retarded cardiac and internal defects

Answer 46

Patau syndrome

Question 47

Mental Retardation; slanting eyes; mongolian eye fold; saddle nose; swollen tongue; underdeveloped ears; slightly flattened face;

Answer 47

Down Syndrome

Question 48

47,XXY

Answer 48

Klinefelter syndrome

Question 49

45,X

Answer 49

Tuners syndrome

Question 50

47,XXX

Answer 50

Triplo-X syndrome

Question 51

22II + XYY

Answer 51

Jacob syndrome or double Y syndrome

Question 52

46,XY

Answer 52

Hermaphroditism