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Medical Genetics > 2A- Intro to Medical Genetics > Flashcards

2A- Intro to Medical Genetics Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

What are chromosome disorders?

A

Entire chromosomes or large segments of them are missing, duplicated or altered

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2
Q

What are single-gene disorders?

A

Single genes are altered. Classified as autosomal dominant, autosomal recessive or X-linked.

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3
Q

What are multifactorial disorders?

A

Combination of multiple genetic and environmental causes.

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4
Q

What are mitrochrondrial disorders?

A

Diseases caused by alteration in the small cytoplasmic mitochondrial chromosome

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5
Q

What has the trend of the genetic disease diagnosis and treatment been like over the past 50 years?

A

public health improved and genetic diseases became a larger percentage of genetic deaths among children in developing countries

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6
Q

What % of the genome codes functional proteins?

A

1%

the rest of the genome sits in unemployed hippy circles chanting that they are the 99%

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7
Q

What makes up 55% of the genome?

A

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

repetitive DNA

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8
Q

What is dispersive repetitive DNA?

A

scattered singly throughout the genome. Do not occur in tandem.

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9
Q

What are the 2 forms of dispersive repetitive DNA?

A

Short Interspersed Elements (SINEs) and Long Interspersed Elements (LINEs)

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10
Q

How long are SINEs?

A

90-500bp

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11
Q

How long are LINEs?

A

Can be up to 7000 bp

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12
Q

What is satellite DNA?

A

repeats are clustered together in certain chromosome locations, where they occur in tandem (the beginning of one repeat occurs immediately adjacent to the end of the another)

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13
Q

What are α-Satellites?

A

tandem repeats of a 171-bp sequence that can extend to several million base pairs or longer.

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14
Q

Where are α-Satellites found?

A

Near the centromeres

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15
Q

What are minisatellites?

A

blocks of tandem repeats (each 14 to 500 bp long) whose total length is much smaller, usually a few thousand base pairs. Vary in length among individuals.

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16
Q

What are microsatellites?

A

even smaller (1-13 bp long). Vary in length among individuals.

17
Q

What happens during prophase of mitosis?

A

chromosomes condense and coil. Sister chromatids attach at centromere. Spindle fibers begin to form from the 2 centrioles on opposite sides of the cell.

18
Q

What occurs during metaphase of mitosis?

A

chromosomes are at their most highly condensed state. Clinical diagnosis of chromosome disorders is usually based on metaphase chromosomes. Spindle fibers begin to contract and pull the centromeres.

19
Q

What occurs during anaphase of mitosis?

A

Centromere of each chromosome splits allowing the sister chromatids to separate. Chromatids pulled to opposite sides of the cell

20
Q

What occurs during telophase of mitosis?

A

new nuclear membranes around 2 sets of 46 chromosomes. Chromosomes begin to decondense. 2 diploid daughter cells formed.

21
Q

What occurs during the replication division stage (meiosis I)?

A

two haploid cells are formed from a diploid cell. These are oogonia in females and spermatogonia in males.

22
Q

What occurs during the interphase I stage of meiosis I?

A

replication of chromosomal DNA

23
Q

What occurs during the prophase I stage of meiosis I?

A

chromatin strands coil and condense

24
Q

What occurs during the synapsis of prophase I?

A

homologous chromosomes pair up, side by side, lying together in perfect alignment. Does not occur in mitosis

25
Q

What occurs during the bivalent stage of prophase I?

A

chromatids of the 2 chromosomes intertwine. This is 2 chromosomes in a unit

26
Q

What occurs during the tetrad stage of prophase I?

A

This is 4 chromatids intertwined in a unit

27
Q

What occurs during the chiasmata stage of prophase I?

A

Cross-shaped structures that mark attachments between the homologous chromosomes. This indicates a point where the homologous chromosomes exchange genetic material by crossing over.

28
Q

What occurs during metaphase I of meiosis I?

A

Completion of spindle formation and alignment of bivalents which are still attached at the chiasmata

29
Q

What occurs during anaphase I of meiosis I?

A

chiasmata disappear and the chromosomes are pulled by the spindle fibers to opposite poles of the cell. Centromeres do not duplicate and divide, so that only half of the original number of chromosomes migrates towards each pole.

30
Q

What occurs during telophase I of meiosis I?

A

chromosomes reach opposite sides of the cell. 2 haploid daughter cells are formed.

31
Q

Tell me the process of the IPMAT of the equational division stage(meiosis II)

A

Interphase II – No replication of DNA
Prophase II – Spindle fibers begin to form from the 2 centrioles on opposite sides of the cell.
Metaphase II – spindle fibers pull the chromosomes into alignment.
Anaphase II – chromosomes pulled to opposite sides of the cell. Chromatids are now serparated but chiasma formation and crossing over cause the chromatids to possibly not be identical.
Telophase II – New membranes formed around the chromosomes and cytokinesis occurs.

32
Q

What is the end result of meiosis II?

A

End result is 4 functional gametes in males and 1 functional gamete and 3 polar bodies for females

33
Q

How long does meiosis occur for a man during the course of his life?

A

All his life

34
Q

What is the process of development from a spermatogonia to a sperm?

A

Spermatagonia (diploid cells in seminiferous tubules; 46 pairs of chromosomes) –> Primary Spermatocytes (diploid cells produced after several mitotic divisions; 46 pairs of chromosomes) –> Secondary Spermatocytes (primary spermatocytes undergos meiosis I; 23 pairs of chromosomes) –> Spermatids (secondary spermatocytes undergo meiosis II; 23 single stranded chromosomes) –> Spermatids lose most of cytoplasm and develop tails to become mature sperm cells

35
Q

When does female oogenesis stop?

A

Before birth

36
Q

Give the oocyte development in females

A

Diploid oogonia divide mitotically to produce primary oocytes by the third month of fetal development. Meiosis I occurs only when a mature primary oocyte is ovulated. In meiosis I, the primary oocyte produces one secondary oocyte (containing the cytoplasm) and one polar body. The secondary oocyte then emerges from the follicle and proceeds down the fallopian tube with the polar body attached to it. Meiosis II begins only if the secondary oocyte is fertilized by a sperm cell. If this occurs, one haploid mature ovum, containing the cytoplasm, and another haploid polar body are produce.

37
Q

When does crossing over occur?

A

While the chromosomes are close to one another in prophase I, they exchange genetic material. This allows for 4 different daughter cells to be formed.

Medical Genetics (13 decks)

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