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1- Human Nuclear Genome Organization Quiz

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Define cytogenetics in simple terms.

Cytogenetics is the scientific study of the genetics of cells, specifically focusing on the structure and function of chromosomes.

What is the role of chromosomes in heredity?

Chromosomes are identified as the vehicle of heredity, carrying genetic information from one generation to the next.

How would you describe the structure of chromosomes?

Chromosomes are structures within cells that contain genetic material (DNA) organized into genes.

Explain the significance of DNA replication in cell division.

<p>DNA replication ensures that each new cell formed during cell division receives an identical copy of the genetic information.</p> Signup and view all the answers

Why is it important to study the genetics of cells?

<p>Studying cellular genetics helps in understanding heredity, variations in inherited characteristics, and investigating genetic disorders.</p> Signup and view all the answers

Who discovered the Y chromosome in humans?

<p>Painter</p> Signup and view all the answers

In which year were Barr bodies identified as being X-chromosomes?

<p>1953</p> Signup and view all the answers

What significant event occurred in 1888 in relation to chromosomes?

<p>Chromosomes named (Waldeyer)</p> Signup and view all the answers

Who was the first to achieve in vitro proliferation of cells?

<p>Harrison</p> Signup and view all the answers

When did Tjio & Levan establish that humans have 46 chromosomes?

<p>1956</p> Signup and view all the answers

Who is credited with creating the first immortalized cell line?

<p>Gey</p> Signup and view all the answers

What is the function of telomeres?

<p>Telomeres act as protective caps at the end of each chromosome, preventing chromosomes from joining together and limiting cell replication.</p> Signup and view all the answers

Where are NORs located and what is their function?

<p>NORs are located on the satellite stalks on the short arms of acrocentric chromosomes (13, 14, 15, 21, 22) and contain multiple clustered copies of genes for 18S &amp; 23S. They are sites of synthesis of ribosomal material during interphase.</p> Signup and view all the answers

What is the purpose of G1 phase in the cell cycle?

<p>G1 phase is the stage where cytoplasmic components are constructed, the cell doubles in size, and it lasts several hours.</p> Signup and view all the answers

What is the significance of the G1/S checkpoint in the cell cycle?

<p>The G1/S checkpoint holds the cell in G1 until everything is ready to proceed to S phase. Once past this point, the cell is committed to divide.</p> Signup and view all the answers

What occurs during the Synthesis (S) phase of the cell cycle?

<p>During the Synthesis (S) phase, a duplicate copy is made of each chromosome, and each chromosome becomes two sister chromatids.</p> Signup and view all the answers

What happens during the G2 phase of the cell cycle?

<p>In the G2 phase, the cell prepares for mitosis by dividing mitochondria and synthesizing spindle fiber precursors. It typically lasts around 4 hours in mammals.</p> Signup and view all the answers

Describe the process of cytokinesis in the cell cycle.

<p>Cytokinesis is the stage of cell division that may be simultaneous with telophase, and the details of the process vary between cell types.</p> Signup and view all the answers

What is the purpose of meiosis in cell division?

<p>Meiosis is needed for sexual reproduction as it allows shuffling of genetic information. It results in 4 daughter cells, each with half the genetic information.</p> Signup and view all the answers

What are the stages of prophase I in meiosis?

<p>The stages of prophase I in meiosis are leptotene, zygotene, pachytene, diplotene, diakinesis.</p> Signup and view all the answers

What cytogenetic technique was introduced in 1982 by Ward & van der Ploeg?

<p>FISH</p> Signup and view all the answers

In which year did Lejeune identify the first inherited deletion syndrome known as 'Cri du Chat'?

<p>1963</p> Signup and view all the answers

What is the genetic condition caused by the presence of XXY chromosomes?

<p>Klinefelter Syndrome</p> Signup and view all the answers

Where was the Duffy blood group gene located as discovered in 1968?

<p>Chromosome 1</p> Signup and view all the answers

Which technology allows for the viewing of all chromosomes using different colors?

<p>Spectral karyotyping</p> Signup and view all the answers

What major genetic disorder is caused by trisomy 21?

<p>Down Syndrome</p> Signup and view all the answers

What was the first immortalized cell line created in the history of cell culture?

<p>HeLa cells</p> Signup and view all the answers

In which year did Waldeyer name chromosomes?

<p>1888</p> Signup and view all the answers

Who discovered the Y chromosome in humans?

<p>Painter</p> Signup and view all the answers

When did Tjio and Levan establish the correct number of chromosomes in humans?

<p>1956</p> Signup and view all the answers

Which scientist is credited with achieving the first successful keeping of cells alive in culture?

<p>Harrison</p> Signup and view all the answers

What was the main contribution of Hsu in cell biology?

<p>Improved views of chromosomes using hypotonic solution</p> Signup and view all the answers

Which type of chromatin contains mostly unique sequence DNA, loosely coiled, and contains active, early replicating genes?

<p>Euchromatin</p> Signup and view all the answers

Which part of chromosomes acts as the protective cap at the end of each chromosome and prevents them from joining together?

<p>Telomeres</p> Signup and view all the answers

The inactivation of one X chromosome in every female cell results in the formation of what type of heterochromatin?

<p>Facultative heterochromatin</p> Signup and view all the answers

Which region on human chromosomes is located on the satellite stalks on the short arms of specific chromosomes and contains multiple clustered copies of genes for ribosomal material synthesis?

<p>Nucleolar Organising Regions</p> Signup and view all the answers

What is the primary function of constitutive heterochromatin located at centromeres and at the distal end of the Y chromosome?

<p>Plays a role in crossing over regulation</p> Signup and view all the answers

Which phase of the cell cycle involves preparing for mitosis, including dividing mitochondria and synthesizing spindle fiber precursors?

<p>Gap 2 (G2)</p> Signup and view all the answers

Match the following structural abnormalities with their descriptions:

<p>Trisomy 21 = Presence of an extra chromosome 21 Cri du Chat Syndrome = Deletion on chromosome 5 causing intellectual disability XYY Syndrome = Additional Y chromosome in males Turner Syndrome = Missing or incomplete X chromosome in females</p> Signup and view all the answers

Match the following terms with their definitions:

<p>Euchromatin = Mostly unique sequence DNA, mostly coding genes, loosely coiled, contains active, early replicating genes Heterochromatin = Mostly repetitive DNA, contains few active genes, replicates late in S-phase, highly condensed NORs = Located on the satellite stalks on the short arms of acrocentric chromosomes, contain multiple clustered copies of genes for ribosomal material synthesis Telomeres = At the end of each chromosome, protective cap that prevents chromosomes from joining together</p> Signup and view all the answers

Match the following stages of the cell cycle with their descriptions:

<p>Prophase I = Chromosomes undergo leptotene, pachytene, zygotene, diplotene, diakinesis G1 Phase = Cytoplasmic components are constructed, cell doubles in size, lasts several hours Mitosis (M) = Two daughter cells are created, daughter cells are identical to the parent cell Meiosis I = Allows shuffling of genetic information, results in 4 daughter cells with half the genetic information</p> Signup and view all the answers

Match the following chromosome abnormalities with their descriptions:

<p>Trisomy = 3 copies of a chromosome Monosomy = 1 copy of a chromosome Triploidy = 3 copies of all chromosomes Aneuploidy = An abnormal number of chromosomes</p> Signup and view all the answers

Match the following genetic conditions with their chromosomal causes:

<p>Turner Syndrome = Missing X chromosome Klinefelter Syndrome = XXY chromosomes Down Syndrome = Trisomy 21 Cri du Chat Syndrome = Deletion in 5p</p> Signup and view all the answers

Match the following terms with their characteristics:

<p>Constitutive Heterochromatin = Located at centromeres of all chromosomes and at distal end of Y chromosome, contains no transcribed genes Facultative Heterochromatin = Caused by inactivation of one X chromosome in every female cell</p> Signup and view all the answers

Turner Syndrome is caused by a missing ______ chromosome

<p>X</p> Signup and view all the answers

Down Syndrome is caused by trisomy of chromosome ______

<p>21</p> Signup and view all the answers

The first inherited deletion syndrome identified was 'Cri du Chat'. It involves a deletion in the ______ chromosome

<p>5p</p> Signup and view all the answers

The first immortalized cell line was created in ______

<p>1952</p> Signup and view all the answers

Barr bodies were identified as being ______-chromosomes in which year?

<p>X</p> Signup and view all the answers

Excellent views of human embryonic mitoses were obtained in ______

<p>1956</p> Signup and view all the answers

In 1888, ______ named chromosomes

<p>Waldeyer</p> Signup and view all the answers

The type of heterochromatin located at the distal end of the Y chromosome is called ______

<p>constitutive</p> Signup and view all the answers

The cell cycle phase where the cell prepares for mitosis by dividing mitochondria and synthesizing spindle fiber precursors is ______

<p>Gap 2 (G2)</p> Signup and view all the answers

The constriction visible in metaphase chromosomes where sister chromatids are joined together is called the ______

<p>kinetochore</p> Signup and view all the answers

The type of heterochromatin caused by inactivation of one X chromosome in every female cell is ______

<p>Facultative</p> Signup and view all the answers

The type of DNA sequences with no known function are called ______

<p>repetitive DNA</p> Signup and view all the answers

The holding stage in the cell cycle where not all cells enter and the cell is viable but does not divide is called ______

<p>G0</p> Signup and view all the answers

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