15 genetics Flashcards

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1
Q

what’s a gene

A

A gene is that part of the DNA molecule
which codes for one polypeptide

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2
Q

what’s an allele

A

An allele is a particular gene coding for
a specific character

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3
Q

what are the sources of different alleles of a gene

A

Gene mutations

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4
Q

the changes in the sequence of base pairs in part of a DNA molecule coding for a polypeptide can be one of four types

A
  • Substitution of one or more base pairs by others
  • Addition of one or more base pairs
  • Deletion of one or more base pairs
  • Inversion where a particular nucleotide sequence is reversed
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5
Q

Causes of mutations

A

They are caused by a number of
chemicals, high energy radiation
e.g. X rays, gamma rays and
ultraviolet light.

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6
Q

what is A mutagen

A

A mutagen is an agent which
causes a mutation

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7
Q

what are considers Chromosome mutations

A

include changes in chromosome structure which can happen during division

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8
Q

types of Chromosome mutations

A

1-duplicated
2-Break off and be lost
3-Break off and rejoin with the sequence of genes inverted
4-Break off and attach to another chromosome

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9
Q

The transfer of a portion of one chromosome to another is called

A

translocation

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10
Q

what is Chromosome mutations

A

Changes in chromosome number result from unequal separation of chromosomes between daughter cells during division

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11
Q

what is non-disjunction

A

After meiosis, one daughter cell may lack one chromosome and the other have one extra chromosome

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12
Q

Chromosomes are present in homologous pairs in

A

somatic cells

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13
Q

Chromosomes are present in homologous pairs in

A

somatic cells

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14
Q

There are at least how many alleles for each character

A

There are at least 2 alleles for each character

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15
Q

A recessive character will only be expressed if

A

if both alleles are recessive

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16
Q

what does A dominant allele mask

A

A dominant allele masks the expression of a recessive allele

16
Q

what does A dominant allele mask

A

A dominant allele masks the expression of a recessive allele

17
Q

what is The genotype

A

The genotype is the genetic constitution expressed in terms of its genes.

18
Q

what is The phenotype

A

The phenotype is the observable features that arise from its genetic constitution

19
Q

what is A monohybrid cross

A

A monohybrid cross involves a single character that is controlled by one gene with two or more alleles.

20
Q

Homozygous =

A

= Pure (Homogeneous)

21
Q

what is Pure Dominant

A

the individual only has genes for the dominant trait.

22
Q

what is Pure Recessive

A

the individual only has genes for the recessive trait.

23
Q

Heterozygous =

A

Mixed (Heterogeneous)

24
Q

what is A heterozygous

A

an individual has one dominant gene and one recessive gene for a trait. The result is the dominant gene is the one expressed or shown.

25
Q

in Autosomal dominant The mutated gene is

A

a dominant gene and One copy of the gene is
sufficient to have the trait

26
Q

Autosomal recessive functions

A
  • Two copies of the gene are
    necessary to have the trait
  • Typically not seen in every
    generation of an affected family
27
Q

what is Brachydactyly

A

its an Autosomal dominant disease and it is a rare condition of humans in which the fingers are very short It is due to a mutation in the gene for finger length tends to occur in members of every generation

28
Q

what is Albinism

A

Albinism is a rare inherited condition in which the individual has a block in the biochemical pathway by which the pigment melanin is formed. * Albinos have white hair, very light coloured skin and pink eyes * It shows an autosomal recessive inheritance * It often skips one or more generations altogether

29
Q

what is Cystic fibrosis

A

its An autosomal recessive trait that
affects the lungs and digestive system.
The body produces thick and sticky
mucus that can clog the lungs and
obstruct the pancreas.

30
Q

The red blood cell antigen is coded
for by

A

by the gene I (for isohaemaglutinogen), which has three alleles IA, IB and IO.
A and IB are codominant, while IO is
recessive.

31
Q

what is Sickle cell anaemia

A
  • Sickle cell anaemia is a genetic disease in the haemoglobin of the red blood cells
    The sickle cell allele causes
    haemoglobin to form a long
    strands
  • The red blood cell carrying
    these molecules distorts into
    a long sickle shape
32
Q

The shape of the haemoglobin molecule is controlled by two alleles

A

Normal Haemoglobin allele (HbA)
* Sickle Cell Haemoglobin allele (HbS
)

33
Q

The genetics of sickle cell anaemia The three phenotype produced are:

A
  1. Normal
    * Normal individuals have two normal haemoglobin alleles
  2. Sickle cell anaemia
    * Sickle cell anaemia patients have two sickle cell alleles in their genotype
  3. Sickle cell trait - 50% of the haemoglobin is affected.
    * Sickle cell trait individuals are heterozygotes, having one of each allele
34
Q

Normal haemoglobin allele is —-
* Sickle cell allele is —-

A

Normal haemoglobin allele is HbA
* Sickle cell allele is HbS

35
Q

Genotypes Phenotypes
HbAHbA ———-
HbAHbS ———
HbSHbS ———-

A

Genotypes Phenotypes
HbAHbA Normal haemoglobin
HbAHbS Sickle cell trait
HbSHbS Sickle cell anaemia

36
Q

Sex is determined by

A

by the sex chromosomes (X and Y)

37
Q

Colorblindness is a recessive and

A

and X-linked trait (Xb). The allele for normal vision is dominant and is represented by XB

38
Q

why The presence of many affected individuals in a family does not always mean that the trait is dominant.

A

because A trait may be recessive but still show up in all generations of a pedigree.