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Biology Unit 1+2 > Unit 2: Chapter 13,14,15,16 > Flashcards

Unit 2: Chapter 13,14,15,16 Flashcards

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1
Q

DNA building blocks

A

Nucleotides
Phosphate backbone - deoxyribose sugar and phosphate head
Nitrogenous bases - ATCG

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2
Q

Nitrogenous bases ATCG

A

Adenine
Guanine
Cytosine
Thymine

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3
Q

5 prime end

A

Head to tail - the phosphate head then the deoxyribose sugar

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4
Q

3 prime end

A

Tail to head - the deoxyribose sugar then the phosphate head

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5
Q

Genome

A

Sum total of the genes present in a cell or an organism. Each genome is the sum total of an organism’s DNA and is expressed as the base sequence of the haploid set of chromosomes.

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6
Q

Human Genome project

A

International project directed at the identification of the sequence of the more than three billion bases in the human genome.

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7
Q

Benefits of HGP

A 
DIagnosis
Treatment
Prevention
Human biology
Human evolution
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8
Q

What does HGP tell us?

A

The differences between the genomes of different people are single-base differences in the DNA sequences of their genomes

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9
Q

Comparative genomics

A

Comparing the genomes of various species will elucidate how various features have evolved and how the genomes of closely related species differ

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10
Q

Chargaff’s rule

A

The relative proportions of A and T are equal and, similarly, the proportion of C is equal to that of G

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11
Q

Features of DNA

A

Consists of two nucleotide chains.
The chains run in opposite directions -‘anti-parallel’.
The sugar–phosphate backbones of the two chains are on the outside of the DNA double helix
There are weak hydrogen holding the bases together

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12
Q

Dissociation

A

separation of a double-stranded DNA molecule into its single strands, which occurs when the hydrogen bonds stabilising the two strands are broken, such as by heating.

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13
Q

Reassociation

A

Pairing again of single strands of DNA during cooling after the two strands of a DNA double helix have been dissociated by heating

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14
Q

Hybridisation

A

Pairing between single-stranded complementary DNA segments from organisms from the same or even different species.

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15
Q

How is DNA packed into a chromosome

A

Base pairs> double helix > DNA > Histone > Nucleosomes > Chromatid > Chromosome

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16
Q

Monohybrid crosses

A

A cross in which alleles of only one gene are involved.

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17
Q

Dihybrid crosses

A

Refers to a cross in which alleles of two different genes are involved.

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18
Q

Dominant

A

refers to a trait that is expressed in the heterozygous condition; also refers to a trait that requires only a single copy of the responsible allele for its phenotypic expression.

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19
Q

Recessive

A

Refers to a trait that is not expressed but remains hidden in a heterozygous organism.

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20
Q

Gene

A

Inherited instruction carried on a chromosome; specific segment of DNA carrying an instruction encoded in its base sequence for a specific protein product.

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21
Q

Function of genes

A

Controls a general function and its alleles produce specific expressions of that function

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22
Q

Alleles

A

The different forms of a particular gene.

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23
Q

Karyotype

A

Specific complement of chromosomes present in a cell or an individual arranged in an organised manner according to an agreed convention.

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24
Q

Karyotype organisation

A

Size
Centromere position
Banding

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25
Q

Sex chromosomes

A

The pair of chromosomes that differ in males and females of a species.

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26
Q

Autosomes

A

Any one of a pair of homologous chromosomes that are identical in appearance in males and females of a species.

27
Q

Homologous

A

Refers to members of a matching pair of chromosomes.

28
Q

Non - homologous

A

Nonmatching chromosomes.

29
Q

Kinetochore

A

A special attachment site of a chromatid by which it links to a spindle fibre

30
Q

Down syndrome

A

chromosomal disorder due to the presence of an additional number 21 chromosome, either as a separate chromosome (trisomy- or triplo-DS) or attached to another chromosome (translocation DS)

31
Q

Trisomy

A

describes a cell or organism with three copies of a particular chromosome that is normally present as an homologous pair.

32
Q

Monosomy

A

Condition in which a cell or organism has only one copy of a particular chromosome that is normally present as a homologous pair.

33
Q

Turner syndrome

A

Missing sex chromosome XO

34
Q

Klinefelter syndrome

A

Extra sex chromosome XXY

35
Q

Duplication

A

Type of chromosome change in which part of a chromosome is repeated.

36
Q

Deletion

A

type of chromosome change in which part of a chromosome is lost.

37
Q

Translocation

A

the location of a chromosome segment is altered so that it becomes relocated to a new region within the karyotype

38
Q

Nondisjunction

A

failure of normal separation of homologous chromosomes during meiosis or failure of normal separation of the two strands of a double-stranded chromosome during meiosis or mitosis.

39
Q

Phenotype

A

Expression of an organism’s genotype in its structural, biochemical and physiological characteristics.

40
Q

Genotype

A

refers to both the double set of genetic instructions present in a diploid organism and to the genetic make-up of an organism at one particular gene locus.

41
Q

Homozygous

A

refers to a diploid cell or organism whose genotype for a particular gene comprises two identical alleles. This state may be denoted, for example, as AA or aa..

42
Q

Heterozygous

A

refers to a diploid cell or organism whose genotype for a particular gene comprises two different alleles. This state may be denoted, for example, as Aa..

43
Q

X linked

A

gene with its locus on the X chromosome; also refers to a trait that is controlled by such a gene.

44
Q

Y linked

A

gene with its locus on the Y chromosome; also refers to a trait that is controlled by such a gene.

45
Q

Hemizygous

A

in a male mammal, describes the genotype with respect to any gene carried on either the X or the Y chromosome, which comprises just a single allele for each gene.

46
Q

Autosomal genes

A

have two copies of each gene located on an autosome.

47
Q

Carrier

A

Refers to a heterozygote that has the allele for a recessive trait but does not show the trait

48
Q

Co-dominance

A

relationship between two alleles of a gene such that a heterozygous organism shows the expression of both alleles in its phenotype; sometimes termed partial dominance or incomplete dominance.

49
Q

Environment and genotype

A

genotype+environment→phenotype

50
Q

PKU

A

Kids with this condition have pp and cannot produce phe hydroxolase which helps with the breakdown of proteins, if they do not eat protein then they can stop mental retardation

51
Q

Monogenetic traits

A

refers to traits that are under the control of single genes.

52
Q

Discontinuous variation

A

type of variation in which members of a population can be grouped into a few non-overlapping classes with regard to expression of a trait.

53
Q

Polygenetic traits

A

traits controlled by the action of two or more polygenes.

54
Q

Polygenes

A

genes that have a small, but cumulative effect on the phenotype and control polygenic traits.

55
Q

Continuos variation

A

type of variation in which members of a population vary across a range.

56
Q

Working out the number of variations from polygenes

A

2n + 1

57
Q

Test cross

A

cross of an organism (uncertain genotype A–) with a homozygous recessive organism (genotype aa) to determine whether that organism is homozygous (AA) or heterozygous (Aa); cross of a double heterozygote (AaBb) with a homozygous recessive (aabb) to determine whether or not the two genes concerned are linked, and, if they are linked, to obtain an estimate of the distance between the two loci.

58
Q

Pedigrees

A

graphic representation using standard symbols showing the pattern of occurrence of an inherited trait in a family.

59
Q

Pedigree - autosomal dominant

A

Both males and females can be affected.

All affected individuals have at least one affected parent

60
Q

Pedigree - autosomal recessive

A

Both males and females can be affected.
Two unaffected parents can have an affected child
The trait may disappear from a branch of the pedigree, but reappear in later generations; that is, it can ‘skip a generation’.
Over a large number of pedigrees there are approximately equal numbers of affected females and males.

61
Q

Pedigree - Xlinked dominant

A

A male with the trait passes it on to all his daughters and none of his sons.
A female with the trait may pass it on to both her daughters and her sons

62
Q

Pedigree - X linked recessive

A

All the sons of a female with the trait are affected.
All the daughters of a male with the trait are carriers of the trait and do not show the trait; the trait can appear in their sons.

63
Q

Pedigree - Y linked

A

Only males can show the trait.
An affected male with the trait will pass the allele to all his sons, who, in turn, will pass it to all their sons, and so on across generations.

Biology Unit 1+2 (9 decks)

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