Week 4 DNA, Genetics, Patterns Of Inheritance Flashcards Preview

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Flashcards in Week 4 DNA, Genetics, Patterns Of Inheritance Deck (65)
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1

DNA is composed of:

1. Deoxyribose sugar
2. A phosphate
3. A base

2

A DNA base includes:

1. Thymine
2. Cytosine
3. Adenine
4. Guanine

3

A single strand of DNA is formed between the sugars and phosphates of nucleotides and is know as:

Sugar-phosphate backbone

4

Define complementary base pairing:

1. Exclusive interaction between A and T involving 2 hydrogen bonds
2. Exclusive interaction between G and C involving 3 hydrogen bonds

5

Pyrimidine bases are:

T and C with 1 nitrogen ring

6

Purine bases are:

A and G with 2 nitrogen rings

7

DNA plus protein

Chromatin

8

A process that involves evaluation of the number and content of the chromosomes.

Karyotyping

9

Involves division of the nucleus.

Mitosis

10

Involves division of the cell

Cytokinesis

11

DNA replication requires this to make a copy of the genetic info in each chromosome.

DNA polymerase

12

Since each resulting DNA molecule contains one original strand and one newly synthesized strand, DNA replication is termed

Semiconservative

13

Original DNA strand is marked with this so that DNA repair enzymes can identify mistakes.

Methyl group

14

Mutations in germline cells can be

Inherited

15

Mutations in somatic cells are

Not inherited

16

The genetic material is translated into protein by first being converted into an RNA molecule in the nucleus through a process called

Transcription

17

The RNA molecule exits the nucleus to the cytoplasm, where it is converted into protein info through a process called

Translation or protein synthesis

18

RNA is a macromolecule similar to DNA except:

1. RNA is single stranded
2. The sugar is RNA is ribose
3. Uracil replaces thymine

19

This is 3 nucleotides in the messenger RNA (mRNA) sequence that specify an amino acid

A codon

20

Mutations that do not change the amino acid are called

Silent mutation

21

Mutations that alter the amino acid and may or may not alter protein structure and this function are called

Missense mutations

22

Other mutations may introduce a stop to protein synthesis and are called

Nonsense mutations

23

Somatic cells have 2 copies of each chromosomes and are called

Diploid

24

Gametes have only one copy of each chromosome and are called

Haploid

25

Involves the division of the nuclear material of a cell.

Mitosis

26

Stages of mitosis

Prophase, metaphase, anaphase, telophase

27

Phase of mitosis were nuclear membrane dissolves and 2 copies of each chromosome (sister chromatic) attach at the centromere

Prophase

28

Phase of mitosis where chromosomes are highly condensed and line up on the equatorial plane of the cell

Metaphase

29

Phase of mitosis where sister chromatids and chromosomes are pulled apart

Anaphase

30

Phase of mitosis where nuclear membrane forms around the 2 sets of chromosomes

Telophase

31

Mitosis is followed by the forming of 2 daughter or progeny cells called

Cytokinesis

32

Involves reduction divisions that take a diploids cell and creates a haploid cell with half the chromosomal info

Meiosis

33

Reduction division stage that results in the formation of 2 haploid cells per diploid cell, and in which homologous chromosomes separate but sister chromatids (copies) remain together

Meiosis I

34

Equatorial division where sister chromatids are separated

Meiosis II

35

Ensures that genetic info in the offspring is unique

Genetic recombination

36

Segments of DNA that control biological characteristics that are passed down from generation to generation (hereditary traits)

Genes

37

Genetic makeup of an organism

Genotype

38

The observable characteristics of an organism produced by the interaction between genotype and the environment

Phenotype

39

A genetic change found in the gametes and thus one that can be transmitted to offspring or inherited

Germline mutation

40

A genetic change in one of the cells of the body that can not be transferred to offspring or inherited

Somatic mutations

41

If both gene copies are the same at a specific allele

Homozygous trait

42

If there are 2 different alleles of a particular gene at a locus

Heterozygous

43

This principle states that 2 members of a gene pair (alleles) separate from each other in the formation of the gametes and that half of the gametes carries one allele and the other half carries the other allele.

Principle of segregation

44

Principle that states genes for different traits assort independently of one another in gamete production and genes controlling different individual loci are not transmitted together to the portent but rather are inherited independently of one another

Principle of independent assortment

45

Caused by a single defective or mutant gene that may be present on one or both alleles

Single-gene disorder

46

Caused by an excess or deficiency of genes contained within a whole chromosome or chromosomal segment

Chromosomal disorders

47

Caused by a combo of variations in a number of genes that together produce or predispose an individual to a serious defect that are often in concert with environmental factors

Multifactorial inheritance disorder

48

A few disorders are characterized by different phenotypes depending upon whether the mutation was obtained from the mother or the father

Genomic imprinting

49

Examples of single-locus genetic disorders that have autosomal recessive traits

CF and SCD

50

Examples of single-locus genetic disorders that have autosomal dominant traits

Achondroplasia (dwarfism) and Marfan syndrome (connective tissue defects)

51

Examples of single-locus genetic disorders that are x-linked recessive

Duchenne muscular dystrophy, hemophilia A, and G7PD deficiency

52

These affects energy metabolism, present with multiple copies, and are inherited from the mother only

Mitochondrial disorders

53

An autosomal dominant disorder or the connective tissue with not structural changes found in the heart, blood vessels, joints, and eyes. People tend to unusually tall, with long limbs and digits

Marfan syndrome

54

What gene is mutated in Marfan syndrome?

FBN1 gene which encodes the connective tissue protein fibrillin-1, a component of the extracellular matrix including formation and maintenance of elastic fibers. It’s on chromosome 15

55

Results from a deficiency of clotting factor VIII that is caused by an inherited x-linked recessive trait with the defective gene located on the X chromosome.

Hemophilia A

56

Hemophilia affects only

Makes while women are carriers

57

Treatment for hemophilia

Includes replacing factor VIII. Mild hemophilia may be treated with desmopressin which helps the body release favor VIII stored within lining of blood vessels

58

Mutations in this often result in disorders that reflect reduced energy production such as poor growth, loss of muscle coordination, and muscle weakness.

Mitochondrial DNA

59

Complete sets of extra chromosomes

Polyploidy

60

Chromosome number that is not 23. An example is trisomy 21. A common cause is nondisjunction.

Aneuploid

61

Occurs due to nondisjunction and is associated with advanced maternal age.

Trisomy 21

62

This occurs during meiosis when there is failure to separate chromosomes (meiosis I) or sister- chromatids (meiosis II)

Nondisjunction

63

Absence of all or part of the X chromosome. Individuals exhibit short stature and lack ovaries and as a consequence there is a lack of secondary sexual characteristics.

Turner syndrome

64

One or more additional X chromosomes with a normal male composition (XY). Individuals exhibit testicular dysgenesis, enlarged breasts, small testes, and inability to produce sperm.

Klinefelter syndrome

65

Translocations 9 and 22 for a truncated chromosome 22 called

Philadelphia chromosome associated with leukemia