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Anatomy > Intro To Genetics > Flashcards

Intro To Genetics Flashcards

1
Q

What is the structure of the nucleosome?

A

It consists of Octomer made of pairs of H2A, H2B, H3 and H4

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2
Q

Where is the location of the H1

A

On the surface of the nucleosome

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3
Q

What is the chromosome structure?

A

Centromere in the mid region divides a chromosome in a short arm (p) and a long arm (q)

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4
Q

What are the stages of the cell cycle?

A

Interphase

Mitosis

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5
Q

What are the stages of interphase?

A

G1: Synthesis of proteins, checking for DNA damage
S:DNA replication
G2: checking for DNA damage and duplication of centrioles

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6
Q

What are the stages of mitosis

A

Prophase
Metaphase
Anaphase
Telophase

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7
Q

What are the characteristics of the prophase?

A

Threadlike chromosomes where sister chromosomes are joined by cohesins
Kinetochore protein serves as an attachment to microtubules
Centrosomes migrate to opposite poles
Nuclear envelope disintegrates

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8
Q

What are the characteristics of the metaphase?

A

Chromosomes condense and attach to mitotic spindle

Chromosomes align at equatorial plane

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9
Q

What are the characteristics of anaphase?

A

Sister chromatids separate and move toward opposite poles

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10
Q

What are the characteristics of the telophase?

A

2 Sets of chromosomes are at the spindle poles

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11
Q

What are the stages of prophase I of meiosis?

A 
Leptotene
Zygotene
Pachytene
Diplotene 
Diakinesis
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12
Q

What are the characteristics of Leptotene?

A

Chromatin condenses
Sister chromatids condense and connect
Pairing of homologous chromosomes initiated

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13
Q

What are the characteristics of Zygotene?

A

Synapsis begins and continue till pachytene

Synaptonemal complex is formed by transverse filaments

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14
Q

What are the characteristics of Pachytene?

A

Synapsis is complete

Crossing over occurs

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15
Q

what are the characteristics of Diplotene?

A

Synaptonemal complex dissolves

Sister chromatids separate except in chiasmata

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16
Q

What are the characteristics of Diakinesis?

A

Chromosomes shortens

Nucleolus and nuclear envelope disintegrates

17
Q

What are the characteristics of metaphase I?

A

Paired chromosomes aligned at the equatorial plate

Homologous chromosomes held together by chiasmata

18
Q

What are the characteristics of anaphase I and telophase I?

A

Similar to mitosis except centromeres do not split

Sister chromatids held together by cohesion and centromere

19
Q

What are the characteristics of gametogenesis?

A

Consists of meiosis and cytodifferenciation
Primordial germ cells formed in the epiblast during the second week
Move through the primitive streak to yolk sac
PGCs migrate to gonads from yolk sac during 4th week
Arrive at the gonads at the 5th week

20
Q

What are the characteristics of Oogenesis?

A

Before birth PGCs differentiate to oogonia
OOgonium goes through mitotic division to give primary oocyte
By the time of birth primary oocytes have started prophase of meiosis I and rest at diplotene stage
At puberty primary oocyte resume and give secondary oocyte.
Secondary oocyte goes through meiosis II and stop at metaphase

21
Q

What are the characteristics of the Spermatogenesis?

A

PGCS give rise to spermatogonial stem cells supported by Sertoli cells
Spermatogonial cells give type A and type B spermatogonia
Type B becomes resting primary spermatocyte
Primary spermatocyte becomes secondary spermatocyte and spermatic after 2 meiotic divisions
At puberty spermatic goes through spermiogenesis
Acrosome form, nucleus condense and shed cytoplasm

22
Q

What are the types of chromosomal abnormalities?

A

Numerical-Euploid(multiples of n) and aneuploid(not euploid)
Structural-microdeletion
Nondisjunction (trisomy, monosomy)
Translocations

23
Q

What are the characteristics of trisomy 21 (down syndrome)?

A

Growth retardation
Intellectual disability
Craniofacial abnormalities (upward slanted eyes)
Epicanthal folds
Cardiac defects
Increased chances of leukemia, infections and Alzheimer’s

24
Q

What are the characteristics of Trisomy 18?

A 
Intellectual disability
Congenital heart defects
Low set ears
Flexion of fingers and hands
Micrognathia(undersize jaw)
25
Q

What are the characteristics of trisomy 13?

A 
Intellectual disability 
Holoprosencephaly
Congenital heart defects 
Cleft lip and palate
Eye defects
26
Q

What are the characteristics of Turner syndrome?

A 
45, X karyotype
Female in appearance 
Gonadal dysgenesis
Webbed neck
Lymphedema of the extremities
27
Q

What are the characteristics of Angelman Syndrome?

A 
Microdeletion of maternal 15q11-15q13
Intellectual disability
Absence of speech
poor motor development
Unprovoked and prolonged periods of laughter
28
Q

What are the characteristics of Prader-Willi syndrome?

A 
Microdeletion of paternal 15q11-15q13
Intellectual disability 
Hypotonia
Obesity
Hypogonadism 
Undescended testes
29
Q

What are the characteristics of Fragile X syndrome?

A 
Xq27 related
Intellectual disability
Large ears
Prominent jaws
Large testes

Anatomy (20 decks)

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