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bot grade 12 > principle of inheritance > Flashcards

principle of inheritance Flashcards

1
Q

Mutation is —– (def)

A

phenomenon which results in alternation of DNA seqs and consequently results changes in the genotype and phenotype of an organism

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2
Q

In addition to —-, mutation is another
phenomenon that leads to —- in DNA.

A

recombination
variation

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3
Q

One —- runs continuously from one end to the other in each chromatid, in a —- form.

A

DNA helix
highly supercoiled

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4
Q

Therefore loss (—-) or gain (—–) of a —-, result in alteration in —–.

A

deletions
insertion /duplication
segment of dna
chromosomes

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5
Q

Since genes are known to be located on chromosomes, alteration in chromosomes results in —- or —-

A

abnormalities or aberrations.

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6
Q

Chromosomal aberrations are commonly observed in —-

A

cancer cells

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7
Q

In addition to the above, mutation also arise due to change in a single — of DNA. This is known as —-.

A

base pair
point mutation

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8
Q

A classical example of — is sickle cell anemia.

A

point mutation

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9
Q

Deletions and insertions of base pairs of DNA, causes —- mutations

A

frame-shift mutations

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10
Q

There are many — and —– factors that
induce mutations. These are referred to as —.

A

chemical and physical
mutagens

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11
Q

—-radiations can
cause mutations in organisms – it is a –.

A

UV
mutagen.

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12
Q

The idea that disorders are — has been prevailing in the human society since —. This was based on the heritability of certain—- in families.

A

inherited
long
characteristic features

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13
Q

After the rediscovery of Mendel’s work the practice of analysing —- in human beings began.

A

inheritance pattern of traits

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14
Q

Since it is evident that —- that can be performed in
pea plant or some other organisms, are not possible in case of human
beings, study of the —- about inheritance of a —
provides an alternative.

A

control crosses
family history
particular trait

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15
Q

Such an analysis of traits in a several of generations of a family is called the —-

A

pedigree analysis

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16
Q

In the pedigree analysis the inheritance of a particular trait is represented in the — over generations.

A

family
tree

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17
Q

In human genetics, — provides a strong tool, which is utilised to trace the inheritance of a —-, — or —–

A

pedigree study
specific trait, abnormality or disease.

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18
Q

Each and every feature in any organism is controlled by —- located on the DNA present in the chromosome.

A

one or the other gene

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19
Q

DNA is the carrier of —.

A

genetic information

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20
Q

DNA is hence transmitted from one generation to the other without any —. However, changes or alteration do take place occasionally. Such an alteration or change in the —- is referred to as
—.

A

change or alteration
genetic material
mutation

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21
Q

A number of disorders in human beings have been found to be associated with the inheritance of —-

A

changed or altered genes or chromosomes.

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22
Q

Broadly, genetic disorders may be grouped into two
categories – —- and —-

A

Mendelian disorders and Chromosomal disorders.

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23
Q

Mendelian disorders are mainly determined by alteration or mutation in the —-.

A

SINGLE GENE

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24
Q

—- disorders are transmitted to the
offspring on the same lines as we have studied in the principle of inheritance.

A

Mendellian

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25
Q

The — of such Mendelian disorders can be traced in a family by the pedigree analysis.

A

pattern of inheritance

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26
Q

Most common and prevalent Mendelian disorders are —- (6) etc.

A

Haemophilia, Cystic fibrosis, Sickle-cell anaemia,
Colour blindness, Phenylketonuria, Thalassemia,

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27
Q

It is important to mention here that such Mendelian
disorders may be — or —.

A

dominant or recessive

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28
Q

By pedigree analysis one can — whether the trait in question is dominant or recessive. Similarly,
the trait may also be —-
as in case of haemophilia.

A

easily understand
linked to the sex chromosome

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29
Q

It is evident that this —
shows transmission from carrier female to male progeny.

A

X-linked recessive trait

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30
Q

Haemophilia : This sex linked — disease, which shows its transmission from — female to – of the male progeny has been widely studied. In this disease, a single protein that is a part
of the cascade of proteins involved in the clotting of blood is affected.
Due to this, in an affected individual a simple cut will result in non-stop
bleeding. The heterozygous female (carrier) for haemophilia may transmit
the disease to sons. The possibility of a female becoming a haemophilic
is extremely rare because mother of such a female has to be at least
carrier and the father should be haemophilic (unviable in the later stage
of life). The family pedigree of Queen Victoria shows a number of
haemophilic descendents as she was a carrier of the disease

A

recessive
unaffected carrier
some

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31
Q

In heamophilia, a — that is a part of the — of proteins involved in the clotting of blood is affected.

A

single protein
cascade

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32
Q

Due to this, in an affected individual a — will result in non-stop bleeding.

A

simple cut

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33
Q

The heterozygous female (—-) for haemophilia may transmit the disease to —.

A

carrier
sons

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34
Q

The possibility of a female becoming a haemophilic
is —- because mother of such a female has to be — and the father should be — (— in the later stage
of life).

A

extremely rare
at least carrier
haemophilic-unviable

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35
Q

The family pedigree of — shows a number of
— descendents as she was a carrier of the disease

A

Queen Victoria
haemophilic

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36
Q

Sickle-cell anaemia : This is an —- trait that can
be transmitted from parents to the offspring when both the partners are — for the gene (or –).

A

autosome linked recessive
carrier- heterozygous

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37
Q

Sickle cell anemia is controlled by a — allele, HbA and HbS

A

single pair of

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38
Q

Out of the three possible genotypes in SCA only
—- show the diseased phenotype.

A

homozygous individuals for HbS (HbSHbS)

39
Q

Heterozygous (HbAHbS) individuals appear — but they are carrier of the disease as there is 50 per cent probability of transmission of the —gene to the progeny, thus exhibiting sickle-cell trait

A

apparently unaffected
mutant

40
Q

SCA is caused by the substitution of — by — ) at the — position of the — chain of the — molecule.

A

Glutamic acid (Glu) by valine (Val)
sixth
beta globin
haemoglobin

41
Q

The substitution of amino acid in the globin protein results due to the — substitution at the sixth — of the beta globin gene from —- to —-

A

single base
codon
GAG to GUG.

42
Q

The mutant haemoglobin molecule undergoes
polymerisation under —- causing the change in the shape of the RBC from —- to —- structure

A

low oxygen tension
biconcave disc to elongated sickle like

43
Q

Phenylketonuria :
This —- is also inherited as the autosomal — trait.

A

inborn error of metabolism
recessive

44
Q

The PKU affected individual lacks — that converts the amino acid —- to —-

A

an enzyme
phenylalanine into tyrosine

45
Q

As a result of this, in PKU phenylalanine is accumulated and converted into — and —-

A

phenylpyruvic acid
and other derivatives.

46
Q

Accumulation of phenyl pyruvic acids and derivatives in brain results in —-.
These are also excreted through — because of its —-

A

mental retardation
urine
poor absorption by kidney.

47
Q

The chromosomal disorders on the other hand are caused due to —-, — or —- of one or more chromosomes.

A

absence or excess or abnormal arrangement

48
Q

Failure of —- during cell division cycle results
in the gain or loss of a chromosome(s), called —.

A

segregation of chromatids
aneuploidy

49
Q

— results in the gain of extra copy of chromosome 21.

A

Down’s syndrome

50
Q

Similarly, — results due to loss of an X chromosome in human —.

A

Turner’s syndrome
females

51
Q

Failure of — after — stage of cell division results in an increase in a whole set of chromosomes in an organism and, this phenomenon is known as polyploidy.

A

cytokinesis
telophase

52
Q

polyploidy is often seen in —.

A

plants

53
Q

The total number of chromosomes in a
normal human cell is 46 (23 pairs). Out of these
— are autosomes and one pair of chromosomes are — chromosome.

A

22 pairs
sex

54
Q

Sometimes, —, either an additional copy of a chromosome may be included in an individual or an individual may lack — of chromosomes. These situations are
known as — or – of a
chromosome, respectively.

A

though rarely
one of any one pair
trisomy or monosomy

55
Q

Such a situation of mono/trisomy
leads to — consequences in the individual. Down’s syndrome, Turner’s
syndrome, — syndrome are common examples of chromosomal disorders.

A

very serious
Klinefelter’s

56
Q

Down’s Syndrome :
The cause of this genetic
disorder is the presence of an additional copy
of the chromosome number 21 (—).

A

trisomy of 21

57
Q

Downs syndrome was first described by —

A

Langdon Down (1866).

58
Q

The down syndrome affected individual is — with —, and —-
Palm is — with —.

A

short statured
small round head
furrowed tongue
partially open mouth

broad
characteristic palm crease

59
Q

In down syndrome- —, — and —- development is retarded

A

Physical, psychomotor and mental

60
Q

Klinefelter’s Syndrome : This genetic disorder is also caused due to the presence of an additional copy of — resulting into
a karyotype of —

A

X-chromosome
47, XXY.

61
Q

Inds with Klinefilter has
overall — development , however, the —development (development of —) is also expressed
Such individuals are —.

A

masculine
feminine
breast,
i.e., Gynaecomastia
sterile

62
Q

Turner’s Syndrome :
Such a disorder is
caused due to the — of one of the X chromosomes, i.e., —,

A

absence
45 with X0

63
Q

Females with turners
are sterile as — besides
other features including —

A

ovaries are rudimentary
lack of other secondary
sexual characters

64
Q
A
65
Q
A
65
Q

The mechanism of — has
always been a puzzle before the geneticists.
The initial clue about the genetic/
chromosomal mechanism of sex
determination can be traced back to some
of the experiments carried out in insects. In
fact, the cytological observations made in a
number of insects led to the development of
the concept of genetic/chromosomal basis
of sex-determination

A

sex determination

66
Q

The initial clue about the — mechanism of sex
determination can be traced back to some
of the experiments carried out in — . In
fact, the cytological observations made in a
number of insects led to the development of
the concept of genetic/chromosomal basis
of sex-determination

A

genetic/ chromosomal
insects

67
Q

In fact, the — made in a
number of insects led to the development of
the concept of
genetic/chromosomal basis of sex-determination

A

cytological observations

68
Q

—- could trace a specific —structure all through
spermatogenesis in a few insects, and it was also observed by him that —- of the sperm received this structure after
spermatogenesis, whereas the other — sperm did not receive it

A

Henking (1891)
nuclear
50 per cent, 50 per
cent

69
Q

Henking gave a name to this structure as the — but he could not explain its —.

A

X body
significance

70
Q

Further investigations by other scientists led to the
conclusion that the ‘X body’ of — was in fact a — and that is why it was given the name X-chromosome.

A

Henking
chromosome

71
Q

It was also observed that in a —- the mechanism of sex determination is of the XO type, i.e., all — bear an additional
X-chromosome besides the other chromosomes (—)

A

large number of insects
eggs
autosomes

72
Q

On the other hand, some of the — bear the
X-chromosome whereas some do not in insects.
Eggs fertilised by sperm having an X-chromosome become — and, those fertilised by sperms that do not have an X-chromosome become —.

A

sperms
females
males

73
Q

Due to the involvement of the X-chromosome in the
—, it was designated to
be the sex chromosome, and the rest of the chromosomes were named as autosomes

A

determination of sex

74
Q

Grasshopper is an example of XO type of sex
determination in which the males have — whereas females have a —-

A

only one X-chromosome besides the autosomes,
pair of X-chromosomes.

75
Q

These observations led to the — of a number of species to understand the mechanism of sex determination.

A

investigation

76
Q

In a number of other
— and —- XY type of sex determination is seen where both male and female have — of chromosomes.

A

insects and mammals including man,
same number

77
Q

In mammals and other insects, Among the males an X-chromosome is present but its counter part is– and called the Y-chromosome.
Females, however, have
a pair of X-chromosomes. Both males and females bear same number of
— . Hence, the males have autosomes plus XY, while female have autosomes plus XX.

A

distinctly smaller
autosomes

78
Q

In — and — the males have one X and one Y chromosome, whereas females have a pair of Xchromosomes besides autosomes

A

human beings and in Drosophila

79
Q

In both XO type and XY type, — produce two different types of gametes, (a) either with or without X-chromosome or (b) some gametes with X-chromosome and some with Y-chromosome.
Such types of sex determination mechanism is designated to be the example of —-.

A

males
male heterogamety

80
Q

In some other organisms, e.g., — , a different mechanism of sex determination is seen where total number of chromosome is same in both males and females. But two —- in terms of the sex chromosomes, are produced by females, i.e., —.

A

birds
different types of gametes
female heterogamety

81
Q

In order to have a distinction with the mechanism of sex determination described earlier, the two different sex chromosomes
of a female bird has been designated to be the — chromosomes.

A

Z and W

82
Q

In birds, the females have one Z and one W chromosome,
whereas males have a —besides the autosomes.

A

pair of Z-chromosomes

83
Q

sex determining mechanism in case of humans is — type.

A

XY type

84
Q

The presence of an X and Y chromosome are — of the male characteristic in humans.

A

determinant

85
Q

In humans, There is an — of fertilisation of the ovum with the sperm carrying either X or Y chromosome. Thus, it is evident that it is the — of — that determines the sex of the child.
It is also evident that in — there is always 50 per cent probability of either a male or a female child.

A

equal probability
genetic makeup of the
sperm
each pregnancy

86
Q

It is unfortunate that in our society women are blamed for giving birth to female children and have been —- and —- because of this false notion.

A

ostracised and ill-treated

87
Q

Thalassemia:
is also an autosomal linked —- — disease transmitted when both the partners are — of the gene (heterozygous)

A

unaffected carriers

88
Q

Thalassemia could be due to —- or —- which ultimately results into reduced rate of —— that make up the —

This causes —– resulting into — which is a characteristic of this disease

A

mutation/ deletion
synthesis of any on of globin chains (alpha, beta)
haemoglobin

abnormal hb mol
anaemia

89
Q

Thalassemia can be classified acc to —-

A

which chain of hb is affected

90
Q

alpha Thalassemia is controlled by —- gene —– on chromosome — of — parent and it is observed dut to —- of one or more of the — genes
The more the genes get affected- the —- —- molecules produced

A

2 closely linked genes
HBA1, HBA2
16, each
deletion/mutation
4

less alpha globin

91
Q

Beta thalassemia is controlled by a —- gene —- on chromosome — of — parent and occurs due to — of —- of the genes

A

single
HBB
11- each
mutation of one or more

92
Q

Thalassemia differs from SCA in the former being —– of synthesising — hb mols while the latter is a —- problem of synthesising —– globin

A

quantitative
too few

qualitative
incorrectly synthesising

93
Q
A

bot grade 12 (5 decks)

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