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Genetics > Human Genetics > Flashcards

Human Genetics Flashcards

1
Q

Determine the possible genotypes and phenotypes of the individuals

A

Pedigree analysis

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2
Q

Affected individual whom the pedigree is discussed

A

Proband

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3
Q

Common patterns of inheritance

A

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

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4
Q

The trait never skips a generation

A

Autosomal dominance

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5
Q

2 affected individual produced affected offspring

A

Autosomal recessive

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6
Q

Affected male with unaffected wife transmit the trait to daughter only

A

Sex-linked dominance

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7
Q

Affected female transmit the trait to son, daughter serves as carrier

A

Sex-linked recessive

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8
Q

Gene exhibits high penetrance or expressivity on one sex

A

Sex-influenced

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9
Q

One mutated copy of the gene in each cell is sufficient for a person to be affected

Give a disease example

A

Autosomal dominance

-Huntington Disease and Marfan Syndrome

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10
Q

Both copies of gene mutations

Give example

A

Autosomal recessive

Cystic fibrosis
Sickle cell disease

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11
Q

Caused by mutations in genes on the X chromosome

Give example

A

X-linked dominant

Fragile X syndrome

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12
Q

Mutations in X-chromosome of male

Give example

A

X-linked recessive

Hemophilia

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13
Q

Mutated gene that causes disorder in Y chromosome of males cell

Give example

A

Y-linked

Y chromosome infertility

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14
Q

Two different versions of a gene are expressed and each version makes a slightly different protein

A

Co-dominant

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15
Q

Also known as maternal inheritance

A

Mitochondrial inheritance

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16
Q

British physician that Described the Down Syndrome

A

J. Langdon Down

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17
Q

degenerative disorder of the human central nervous system in the progressive impairment of the memory

A

Alzheimer’s Disease

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18
Q

Describes Edwards Syndrome

A

John H. Edwards

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19
Q

Patau Syndrome is described by

A

Klaus Patau

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20
Q

Disorders associated in Sex Chromosome Aneuploidy or change in the number of sex chromosome

A

Klinefelter’s Syndrome
Turner’s Syndrome
Triple X syndrome
Double Y Syndrome
Hermaphroditism

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21
Q

Human disorders due to changes in chromosome structure

A

Cri-du-chat Syndrome
Muscular dystrophy
Robertsonian translocation
Philadelphia syndrome

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22
Q

A condition characterized by accumulation of galactose in blood

A

Galactosemia

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23
Q

Homozygous recessive individuals are unable to metabolize galactose because of deficiency in

A

Gal-1- Puridyl transferase enzyme

24
Q

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

A

Phenylketonuria

25
Q

Hereditary abnormality that is due to errors on melanin synthesis

A

Albinism

26
Q

Disorders that can be detected in new born screening

A

Congenital Hypothyroidism
Galactosemia
Phenylketonuria
Glucose-6 Phosphate Dehydrogenase deficiency

27
Q

Caused by mutations of a gene called CFTR

A

Cystic Fibrosis

28
Q

Meaning of CFTR

A

Cystic Fibrosis transmembrane conductance regulator

29
Q

A complex of protein that work together to strengthen muscle fibers and protect them from injury as muscle contract and relax

A

Dystrophin

30
Q

Group of disorders that affect hemoglobin

A

Sickle cell disease

31
Q

Loss of ability to organize thoughts and perception

A

Schizophrenia

32
Q

Perceives self as obese and starves intentionally

A

Anorexia nervosa

33
Q

Eating huge amount to be followed by vigorous vomiting in order to maintain weight

A

Bulimia

34
Q

Males see themselves as too small and takes amino acids supplements to have masculine physique

A

Muscle dysmorphia or bigorexia

35
Q

Compulsive behavior of seeking and taking drug

A

Drug addiction

36
Q

Due to deficiency of neurotransmitters serotonin and norepinephrine

A

Major depressive disorders

37
Q

Application of molecular genetics

A

Genetic Engineering

38
Q

Requirements for genetic engineering

A

Restriction of endonuclease
DNA ligase
Vehicles for cloning
Functional host cell
A method for selection of recipient cell and their multiplication
Recipient cell

39
Q

Joining together of DNA molecules from two different species that are interested into host organism

A

Recombinant DNA technology

40
Q

General name for a piece of DNA that has been created by the combination of at least two strands

A

rDNA

41
Q

Steps of genetic recombinant technology

A

Isolation of genetic material
Restriction enzyme digestion
Amplification using pcr
Ligation of DNA molecules
Insertion of Recombinant DNA in the host
Isolation of Recombinant Cells

42
Q

Act as molecular scissors that cut DNA at specific location

A

Restriction enzymes

43
Q

Reveals the progress of the restriction enzyme digestion

A

Agarose Gel Electrophoresis

44
Q

A method of making multiple copies of a DNA sequence using the enzyme DNA polymerase vitro

A

Polymerase Chain Reaction

45
Q

A process that the recombinant DNA is introduced into a recipient host cell

A

Transformation

46
Q

RFLP

A

Restriction Fragment Length Polymorphism

47
Q

VNTR

A

Variable Number of Tandem Repeats

48
Q

DNA fragments that can distinguished from one another due to their differences in nucleotide sequences

A

DNA markers

49
Q

Used to leached metals from Fe ore
Used to process waste H2S gas produced by petroleum refineries

A

Iron-oxidizing bacteria

50
Q

Used to leached metals from Fe ore
Used to process waste H2S gas produced by petroleum refineries

A

Iron-oxidizing bacteria

51
Q

Bacteria genrtically engineered to glow in the dark
Can be used as living biosensor

A

Bacterial biosensors

52
Q

Hormone for glucose intake and a treatment for diabetes

A

Insulin

53
Q

Dissolves blood clot and treatment for heart attack victoms

A

Tissue plasminogen avtivator

54
Q

Blood clotting factor and a treatment for certain types of hemophilia patients

A

Factor VIII

55
Q

Lower blood pressure treatment for hypertension

A

Renin inhibitor

Genetics (6 decks)

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