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Medical Genetics > Unit 1: Chromosomal Structure > Flashcards

Unit 1: Chromosomal Structure Flashcards

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1
Q

A non-sex chromosome

A

Autosomal chromosome

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2
Q

A particular chromosomes That are involved in determining the sex of an organism. The paired sex chromosomes do not carry an identical complement of genetic information. The X chromosome, being larger, carries many more genes when does the Y

A

Sex chromosome

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3
Q

An organism with two copies of each chromosome

A

Diploid (46 chromosomes) 

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4
Q

A term used when a cell has half the usual number of chromosomes.

A

Haploid

Ex: Gameats (Sperm and ova)

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5
Q

Deoxyribonucleic acid polymer: The molecule that carries genetic information

A

DNA

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6
Q

The physical characteristics of an individual

A

Phenotype

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7
Q

A phenotype or allele that completely masks the presence of the other, recessive allele in the heterozygote

A

Dominant

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8
Q

A phenotype or allele exhibited only when homozygous

A

Recessive

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9
Q

The fundamental unit of heredity; A specific section of DNA within a chromosome

A

Gene 

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10
Q

The genetic makeup of an individual; The allele(s) possessed at a given locus

A

Genotype

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11
Q

An individual with two different alleles of a given gene or locus

A

Heterozygote

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12
Q

An individual with two identical alleles of a given gene or locus

A

Homozygote

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13
Q

A specific location on a chromosome

A

Locus

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14
Q

Genomic DNA organized into a number of rod–shaped organelles

A

Chromosomes

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15
Q

The number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual.

A

Karyotype

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16
Q

Packed chromosomes in cell complex with several classes of specific proteins

A

Chromatin

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17
Q

Each complex of DNA with core histones

A

Nucleosome

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18
Q

A small but important subset of genes encoded in the human genome resides in the cytoplasm in the mitochondria. The mitochondrial DNA molecules is only 16 kb, Encodes only 37 genes. 

A

Mitochondrial chromosome

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19
Q

Alternative forms of a gene

A

Alleles

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20
Q

A pair of chromosomes carrying matching genetic information, typically have the same genes in the same order.

A

Homologous chromosomes

Ex: Moms chromosome number one and dad’s chromosome number one. 

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21
Q

The two identical chromosomes that result from DNA replication.

A

Sister chromatids

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22
Q

A region of the chromosome where sister chromatids are held together by proteins

A

Centromere

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23
Q

Natural end of a eukaryotic chromosome composed of a usually repetitive DNA sequence and serving to stabilize the chromosome

A

Telomere

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24
Q

Chromosomes are only found in ___________ cell Nucleus

A

Eukaryotic

25
Q

Chromosomes can be seen in condensed form only during ____________. 

A

Nuclear division

26
Q

During interphase genetic material occupies areas of nuclei in the form of _________. 

A

Chromatin

27
Q

Chromatin functions to….

A

package and compressed DNA, exposing specific genes for transcription during certain phase of cell lifespan and condenses the rest

28
Q

Individual chromosome can’t be distinguished except ______________ probes complementary to specific chromosomal sequence. 

A

Fluorescent

29
Q

Which arm of the chromosome is short? And which one is long? 

A

P- short arm

q- Long arm

30
Q

What is the best phase of mitotic cell division to view a chromosome?

A

Metaphase

31
Q

In what mitotic cell division phase is DNA becoming more condense?

A

Prophase 

32
Q

Each homologous set is made up of ____ Homologues

A

2

  • One from each parent
  • not the same as sister chromatid
33
Q

23rd chromosome is the…

A

Sex chromosomes

34
Q

Chromosomes are most condensed (Thickened)  And highly coiled in what phase? 

A

Metaphase

  • Most suitable for visual analysis
35
Q

The analysis of ___________ chromosomes is one of the main tools of classical cytogenetics and cancer studies. 

A

Metaphase

36
Q

______________ chromosomes make the classical picture of chromosomes (Karyotype). 

A

Metaphase

37
Q

DNA double helix of about 2.0 nm thick is wrapped around a core of four pairs of histone molecules to form….

A

Nucleosomes 

38
Q

What forms the core of Nucleosome?

A

Four pairs of histones

39
Q

_________ DNA connects between Nucleosomes.

A

Linker ?

40
Q

Nucleosomes attached together by peripheral histone and condense forming a fiber of about _____nm thick.

A

30

41
Q

The nucleosome of fibers form loops radiating from scaffolding non-histone Proteins to form the DNA proteins complex of chromatin _________ During cell division.

A

Fibers

42
Q

As a result of DNA replication, each chromosome becomes two ______________ attaching at centromere of about 1400 nm in thickness in metaphase.

A

Sister chromatids

43
Q

Kinetochore

A

?

44
Q

____________ makes out chromosomes.

A

Chromatin

  • Changes to chromatin structure can prevent or allow certain regions of the genetic code to be read and expressed
45
Q

Is the genetically active type of chromatin involved in transcribing RNA to produce proteins

A

Euchromatin

46
Q

What is the perdominant type of chromatin found in cells during interphase?

A

Euchromatin (more diffused) 

47
Q

Is genetically inactive type of chromatin

A

Heterochromatin (more concentrated along chromosomes at certain regions of the structures, such as centromeres and telomeres)

48
Q

Does heterochromatin or euchromatin stain darker? 

A

Heterochromatin (more condensed) 

49
Q
  • Silenced genes (Methylated)

- Gene poor (high AT content)

A

Heterochromatin

50
Q
  • Gene expressing

- Gene rich (Higher GC content) 

A

Euchromatin

51
Q

Sister chromatids are joined together by a common __________.

A

Centromere

52
Q

Site of crossing over

A

Chiasmata

  • leads to diversity
53
Q

Pairing of two homologous chromosomes that occur during meiosis

A

Synapsis 

54
Q

Synapsis occurs during _________

A

Prophase 1

55
Q

When the homologs line up besides each other and form a zipper-like connection between each other

A

Synapsing

(The zipper like connection is chiasmata) 

56
Q

Chromosomes regions (bands) are named numerically starting from the….

A

Centromere

57
Q

What is the nomenclature of chromosomes? 

A
  • Chromosome number written first
  • Location on the short or long arm
  • Region of the arm (specific band) 
58
Q

What are the different mutation types?

A
  • t (translocation)
  • del (Deletion)
  • ins (dup) (insertion)
  • inv (Inversion)

Medical Genetics (3 decks)

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