Unit 2: KS 2- Genomes, Genes & Alleles Flashcards

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1
Q

What does genome mean?

A

The complete set of genetic material present within a haploid set of chromosomes

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2
Q

What is a gene?

A

Specific segment of DNA on a chromosome, which code for different traits.

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3
Q

What is an allele?

A

A different version of the same gene

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4
Q

What are the 4 Nucleotide bases?

A

Adenine, Thymine, Guanine and Cytosine

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5
Q

How do the bases pair?

A

A pairs with T

C pairs with G

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6
Q

Which scientist developed the concept of genes?

A

Gregor Mendel

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7
Q

What is meant by the term dominant?

A

A trait which is expressed in a heterozygous pair

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8
Q

What is meant by the term recessive?

A

A trait which is NOT expressed in a heterozygous pair

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9
Q

What is a Karyotype?

A

Visual representation of chromosomes, sorted into homologous pairs from largest to smallest.

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10
Q

What genetic difference does a person with Down Syndrome have?

A

3 chromosomes in the 21st group instead of 2

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11
Q

What genetic difference does a person with Kinefelter Syndrome have?

A

3 sex chromosomes instead of 2

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12
Q

What are the 3 types of Chromosomal changes?

A

Duplication, Deletion and Translocation

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13
Q

What does phenotype mean?

A

Visual expression of an organisms genetic makeup

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14
Q

What does genotype mean?

A

Genetic makeup which determines the phenotype

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15
Q

What does autosome mean?

A

Any chromosome which isn’t a sex chromosome

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16
Q

What does homozygous mean?

A

Having 2 identical alleles

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17
Q

What does heterozygous mean?

A

Having 2 different alleles

18
Q

What does locus mean?

A

Location of a gene on a chromosome

19
Q

What is a polygene?

A

Group of genes which express a phenotype only when all shown

20
Q

What is an example of a Polygenic Trait?

A

Height, Eye Colour, Skin Colour etc

21
Q

What does autosome mean?

A

22 pairs of chromosomes (not sex chromosomes)

22
Q

What does non-homologous pair mean?

A

Refers to a non-matching pair

23
Q

What is the Kinetochore?

A

Attachment point for spindle fibre (surrounds centromere)

24
Q

What is the Telomere?

A

Ends of chromosome, prevent chromosomes from sticking together

25
Q

What is co-dominance?

A

Heterozygous organism showing both alleles in phenotype

26
Q

What is dominant?

A

Refers to trait which IS expressed in heterozygous pair.

27
Q

What is recessive?

A

Refers to trait which IS NOT expressed in a heterozygous pair

28
Q

Name 2 benefits of The Human Genome Project:

A

Helps to understand Human Evolution

Can be used to develop treatments or diagnoses for genetic disorders

29
Q

What genetic difference does a person with Turner’s Syndrome have?

A

1 sex chromosome instead of 2 (XO)

30
Q

What is DNA?

A

Chain of nucleotides which contain the genetic instructions used to encode life

31
Q

What is Chargaff’s Rule?

A

Corresponding bases have equal proportions

eg. A and T

32
Q

What is the difference between Ideogram and Karyotype?

A

Ideogram shows individual chromosomes, karyotypes shows homologous pairs

33
Q

What is the difference between an Autosome and a Sex Chromosome?

A

Autosomes control body characteristics and somatic cells, sex chromosomes determine the sex of individual

34
Q

What is the difference between Haploid and Diploid?

A

Haploid is number of chromosomes in gamete, diploid is number of chromosomes in somatic cell

35
Q

What is the difference between Centromere and Kinetochore?

A

Centromere is where sister chromatids join, Kinetochore is protein structure which forms spindle fibres

36
Q

What is the difference between Monosomy and Trisomy?

A

Monosomy is when 1 chromosome is present, Trisomy is when 3 chromosomes are present

37
Q

What is a homologous chromosome pair made of?

A

1 Paternal chromosome and 1 Maternal chromosome

38
Q

What is Epigenetics?

A

The alteration of the physical structure of DNA, which affect how genes are read

39
Q

What is continuous variation?

A

Variation which has no limit on the number of possibilities which can occur. Eg Height

40
Q

What is discontinuous variation?

A

When individuals can be grouped into categories based on limited outcomes. Eg Blood Type