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flashcards > Heredity & Societies Transmission Genetics (Lectures 4-6) > Flashcards

Heredity & Societies Transmission Genetics (Lectures 4-6) Flashcards

0
Q

Why did Mendel use peas?

A 
Identifiable traits
Easy to grow
Take little space 
Inexpensive
Short growth period
Self fertilizing
Artificially fertilized
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1
Q

Who is Johan Gregor Mendel

A
  • monk

- expired mended peas to understand fundamental principles of genetics

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2
Q

What was mendle’s experimental design?

A 
Large sample size over 10 yr period
7 different traits
Repeated experiments 
Analyzed data with probability and statistics
Lack of preconceived notion
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3
Q

Allele

A

Alternate form or variation of gene

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4
Q

2 types of alleles

A

Homozygous and heterozygous

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5
Q

Homozygous

A

Two identical alleles for a gene

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6
Q

Heterozygous

A

Two different alleles for a gene

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7
Q

Phenotype

A

Physical trait of an organism; obserable

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8
Q

Genotype

A

Genetic constitution of an organism

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9
Q

Dominant

A

The allele that the organism’s appearance

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10
Q

Recessive

A

alleles that has no noticeable effect on the appearance

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11
Q

Mendel’s first law

A

Principle of segregation

  • members of a gene pair separate during the formation of gametes
  • genes must separate during gametes formation so that each game contributes one gene to the zygote
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12
Q

Mendel’s Second Law

A

Principle of Independent Assortment: alleles of one pair of genes segregate into gametes independent of the alleles from another gene pair. Genes are packaged into gametes randomly

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13
Q

Mendelian inheritance in humans pigmentation gene and albinism

A

75% normals

25% albino

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14
Q

What is albinism

A

Pigmentation dominant and lack of pigment recessive 3:1 ratio

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15
Q

Where are autosomal traits located?

A

Human autosomal traits are located on the non sex chromosomes (1-22)

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16
Q

What are autosomal traits

A

They may be inherited as auto sales recessive or autosomal dominant. The non sex chromosomes

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17
Q

Pedigree

A

Depicts family relationships and patterns of inheritance for particular traits

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18
Q

Autosomal Recessive

A
  • Unaffected parents have affected children
  • All children of affected parents are affected
  • Both parents Aa, risk affected child -25%
  • Equal affected male and female
  • consanguinity
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19
Q

Consanguinity

A

Kissing cousins

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20
Q

Autosomal recessive traits

A
  • cystic fibrosis
  • Tay sacks disease
  • Sickle cell anemia
  • albinism
  • attached ear lobes
21
Q

Autosomal Dominant

A
  • requires one copy -mutant allele (Aa)- rarely (AA)
  • aa: unaffected individuals
  • affected individual- at least one affected parent
  • Aa x aa: each child- 50%chance- affected
  • Equal numbers- males and females two affected individuals -unaffected children
22
Q

X Linked Recessive

A
  • males: homozygous for genes on the X (doesn’t have an allied counter part)
  • affected makes get faulty allele from mom- transmit to daughter but not son
  • daughters of affected makes are heterozygous, thus unaffected
  • for recessive traits, XX and XY affected
  • more males affected
23
Q

Autosomal dominant traits

A
  • Marfan syndrome
  • Ectrodactyly
  • Neurofibromatosis
  • Huntington disease
  • Widow’s peak, freckles
24
Q

X linked recessive traits

A
  • hemophilia
  • color blindness
  • muscular dystrophy
25
Q

Hemophilia

A

Blood does not clot, bleed to death

Royal disease

26
Q

Color blindness

A

More male 1/12

Women 1/200

27
Q

X linked dominant

A

Affected males- all affected daughter but no affected sons

Heterozygous females- unaffected and affected offspring;- equally affected

28
Q

X linked dominant traits

A

Hypophosphatemia

And some types of hereditary hearing loss

29
Q

Y linked

A

Passes only father to sons
Women never affected
Doesn’t skip generations
Y linked traits -rare-Y has fewer genes

30
Q

Mitochondrial inheritance- non Mendelian inheritance

A

Mitochondria- have their own dna

  • transmitted from mother to all of her offspring
  • males and females equally affected
31
Q

Who can pass down mitochondria

A

Mom

32
Q

Polygenic traits/ disorders

A

Are determined by two or more genes -eye color

33
Q

Multi factorial traits

A 
Controlled by two or more genes and show significant interaction with the environment 
Height 
Skin
Color
Diabetes
Obesity 
Cardiovascular
Cancer
34
Q

Twin studies

A
  • Used often in studies to determine the influence of heredity and environment on the phenotype
  • identical genes- if not identical in phenotype, may be deduced that environmental influences exists
  • debate over nature vs nurture
35
Q

What can the environment influence

A

The genotype to produce the phenotype

36
Q

Risk factors for cardiovascular disease

A 
Heredity
Male
Hypertension 
ldl (low density lipoproteins) or Hdl (high density lipoproteins)
Smoking
Obesity
Lack of exercise
Stress
37
Q

Survey of multi factorial traits complex traits

A 
Cardiovascular disease 
Diabetes
Obesity
Behavior
Intelligence
39
Q

Monozygotic twins

A

two offspring born of the same pregnancy and developed from a single fertilized ovum that splits into equal halves during an early cleavage phase in embryonic development, giving rise to separate fetuses

39
Q

Dizygotic twins

A

two offspring born of the same pregnancy and developed from two ova that were released from the ovary simultaneously and fertilized at the same time.

40
Q

Neural tube defects

A

A group of disorders that result from defects in the formation or development of the neural tube

41
Q

Cystic fibrosis

A

damage to the lungs and digestive system.

42
Q

Sickle cell anemia

A

loose oxygen. outside in the sun. common in African Americans,

43
Q

hemizygous

A

Having only a single copy of a gene instead of the customary two copies.

44
Q

muscular dystrophy

A

progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

45
Q

Huntington disease

A

nerve cells in the brain. Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.30s or 40s

46
Q

locus or loci

A

location of the gene/allele

47
Q

genes

A

Carries of genetic information in the form of DNA

48
Q

Marfan syndrome

A

weakness in connective tissue

49
Q

Ectrodactyly

A

lobster claw syndrome

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