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quiz sheshaball > MODULE-11-Human-Genetics > Flashcards

MODULE-11-Human-Genetics Flashcards

1
Q

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

A

Pedigree Analysis

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2
Q

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

A

proband

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3
Q

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

A

dominant
recessive
autosomal
sex-linked

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4
Q

will not skip a generation.

A

Dominant traits

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5
Q

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

A

recessive traits

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6
Q

males are much more commonly affected than females

A

X-linked recessive traits

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7
Q

both males and females are equally likely to be affected

A

autosomal traits

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8
Q

Common pattern of inheritance in man 5

A

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

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9
Q

The trait for this type of inheritance never skips a generation

A

Autosomal dominance

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10
Q

Marriage between 2 affected individuals produce affected offspring

A

Autosomal recessive

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11
Q

Affected male with unaffected wife transmit the trait to daughter only

A

Sex-linked dominance

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12
Q

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

A

Sex-linked recessive

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13
Q

Gene exhibits high penetrance or expressivity in one sex

A

Sex-influenced

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14
Q

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

A

Autosomal dominant disorder

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15
Q

both copies of the
gene in each cell have mutations.

EX - Cystic fibrosis
Sickle cell disease

A

Autosomal
recessive

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16
Q

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

EX - Fragile X syndrome

A

X-linked
dominant

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17
Q

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

EX - Hemophilia

A

X-linked
recessive

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18
Q

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

A

Y-linked

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19
Q

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

A

Co-dominant

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20
Q

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

EX - Leber hereditary
optic neuropathy

A

Mitochondrial DNA inheritance

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21
Q

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

A

Humans

22
Q

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

A

Autosomal Aneuploidy

23
Q

Among the most common trisomy are

A

trisomy-21 (Down Syndrome)

trisomy–18 (Edward Syndrome)

trisomy – 13 (Patau Syndrome)

24
Q

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

A

J. Langdon Down

25
Q

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

A

Edward’s Syndrome

26
Q

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.

A

Patau syndrome Syndrome

27
Q

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.

A

Cri-du-chat Syndrome

28
Q

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

A

Muscular dystrophy

29
Q

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

A

Dystrophin

30
Q

Recipocal translocation involving chromosomes 2 and 20

A

Robertsonian translocation

31
Q

translocation involving
chromosomes 9 and 22

A

Philadelphia syndrome

32
Q

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

A

Galactosemia

33
Q

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

A

Phenylketonuria

34
Q

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

A

Albinism

35
Q

Group of disorders that affect hemoglobin

A

Sickle Cell Disease

36
Q

Behavioral Genetics 7

A

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

37
Q

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

A

Schizophrenia

38
Q

can be in the form of anorexia or bulimia.

A

Eating disorder

39
Q

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

A

Drug addiction

40
Q

more common in women; chronic depression interspersed with acute episodes

A

Mood disorders

41
Q

foundation of rational behavior

not a well-defined characteristic

A

Intelligence

42
Q

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

A

Alcoholism

43
Q

A behavioral disorder that can be strongly inherited

A

Criminality

44
Q

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

A

Down Syndrome

45
Q

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

A

Edward Syndrome

46
Q

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

A

Patau syndrome

47
Q

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

A

Down Syndrome

48
Q

47,XXY

A

Klinefelter syndrome

49
Q

45,X

A

Tuners syndrome

50
Q

47,XXX

A

Triplo-X syndrome

51
Q

22II + XYY

A

Jacob syndrome or double Y syndrome

52
Q

46,XY

A

Hermaphroditism

quiz sheshaball (14 decks)

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