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Morbid Anatomy > Genetics > Flashcards

Genetics Flashcards

1
Q

What is teratology?

A

It’s the study of developmental anomalies

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2
Q

What are teratogens

A

They are physical, chemical or biological which results in developmental anomalies

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3
Q

What is a malformation

A

It can be said to be a type of anomaly.
It is a morphological abnormality of an organ part on of an organ or anatomica region due to perturbed morphogenesis

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4
Q

Ways in which teratogenic can be identified include

A

1.Population survey
2.Retrospective or prospective studies of single malformations
3.Studying the adverse effect of drugs and chemicals

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5
Q

Genetic and developmental disorders can be classified into

A

Single gene defects
Chromosomal abnormality
Error of morphogenesis
Polygenic inherited disease

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6
Q

A noxious exogenous toxins that affect the preimplantation embryo does not result in malformations but ………….. usually unnoticed and perceived as healthy delayed menstrual bleeding

A

Death

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7
Q

Injury during the ……….. days after fertilisation results in incomplete separation of blastomeres to yield siamese twins

A

8-10 days

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8
Q

The conjoined twins can be joined at different sites

A

Craniopagus
Ischiopagus
Thoracopagus

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9
Q

Sacrococcy legal teratoma is an example of

A

Asymmetric conjoined twins in which the abnormal is inside the other fetus

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10
Q

A lot of complex morphological abnormalities results as a result of ……….

A

Injury during early stage of organogenesis

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11
Q

The reason why organogenesis is susceptible to injury is because

A

Faulty gene activity
Exposure to exogenous antigen

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12
Q

List the developmental anomalies and explain

A

Hypoplasia
Agenesis
Aplasia
Involution failure
Division failure
Dysraphic anomalies
Atresia
Heterotopia or ectopic
Dystopia

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13
Q

When does organ fully form in fetal life

A

By the end of first trimester, all organs are fully formed

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14
Q

At what stage of fetal life is it unlikely for morphological damage due to teratogens to occur

A

After the third month of pregnancy but functional damage and to a lesser extent structural damage can occur because organs continue to mature and restructure

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15
Q

A morphological anomaly that occurs in the 2nd and 3rd trimester are……… and are caused due to ……….

A

Deformation
Mechanical damage

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16
Q

Types of mechanical damage that leads to deformation are divided into

A

Extrinsic :club foot in oligohydraminos
Intrinsic :hypomobility due to CNS damage

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17
Q

What is genetics?

A

It is the study of characteristics that can be passed down from one generation to another and variation in the inheritance traits

18
Q

What is the distinguishing feature of a chromosome?

A

The position of the centeromere to the whole length of the chromosome and the length of the arm on either side.

19
Q

What is the role of actin in cell division

A

It forms contractile ring that helps divide the cytoplasm into two daughter cells

20
Q

Differences between DNA and RNA

A

Single stranded vs double stranded
The nitrogen base thymine is replaced by uracil in RNA
Deoxyribose sugar vs ribose

21
Q

Differences between DNA and RNA

A

Single stranded vs double stranded
The nitrogen base thymine is replaced by uracil in RNA
Deoxyribose sugar vs ribose

22
Q

The RNA that exist in a clover-leaf like shape is

A

tRNA

23
Q

The RNA that exist in a clover-leaf like shape is

A

tRNA

24
Q

The protein synthesis machinery in the cell is ………..

A

Ribosome

25
Q

What is the heterogeneous nuclear RNA

A

It is involved in splicing process.
In which all introns are removed and extrinsic or coding region are joined together to form mRNA.
It’s a precursor of the mRNA or mature RNA

26
Q

The three types of cells are with examples

A

Labile cells
Epithelium of UT vagina skin
Stable cells
Liver
Kidney

Permanent cells
Skeletal
Cardiac
Neurons

27
Q

The two major mutagenic chemicals are

A

Nuckeic acid analogues
Alkylating agent

28
Q

A terminal deletion can be mistaken for a ………..

A

Translocation

29
Q

What are mutagenic agents?

A

Physical, chemical or biological agent that results in or associated with mutation

30
Q

There are over ………… chemicals that results in mutations

A

200 chemicals

31
Q

Some viruses have been associated with chromosomal abnormalities such as

A

Breakage
Fragmentation
Pulverisation
Cell fusion with abnormal mitotic spindle formation

32
Q

Viruses associated with chromosomal abnormalities include

A

Herpes, measles and oncogenic biruses

33
Q

The chromosomal translocation in down syndrome exist in

A

14:21 - transmitted through mothers
21:22 - transmitted by both sexes

34
Q

The autosomal recessive disorders associated with a high degree of chromosomal instability include

A

Bloom’s syndrome
Ataxia telangiectasia
Fanconi’s anemia.

35
Q

What is the aetiology of autosomal recessive disorders associated with very unstable chromosome

A

Mutation due to faulty DNA reparative apparatus.
This renders them highly susceptible to mutation

36
Q

The unaltered gene is known as……..

A

Wild type gene

37
Q

The mutant and wild type gene are inherited in ………….. manner

A

Stable manner

38
Q

The two types of mutations are

A

Point mutation
Rearrangement affects a larger number of genes

39
Q

The commonest forms of mutations are

A

Deletion or insertion of additional genetic material

40
Q

B0thalassemia is a type of

A

Nonsense mutation

41
Q

What is the genetic basis of tay sacchs disease ashkenazi Jews

A

There is an insertion of 4 bases in the hexaminidase A gene which results in frameshift mutation

42
Q

The two types of heritable single gene disorders are

A

Mitochondrial DNA disorders
Chromosomal DNA disorders

Morbid Anatomy (5 decks)

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