Genetics and Karyotype Analysis

<p>Shorter repeat sequences are generally more variable. (C)</p> Signup and view all the answers

<p>One X-chromosome is randomly chosen in each cell and completely silenced. (D)</p> Signup and view all the answers

<p>Jerry (B)</p> Signup and view all the answers

<p>Single Nucleotide Polymorphism (SNP) (C)</p> Signup and view all the answers

<p>They are highly variable, allowing for clear distinction between individuals. (D)</p> Signup and view all the answers

<p>Jerry is the most likely father of the child. (D)</p> Signup and view all the answers

<p>It is linked to a gene potentially involved in the disorder. (C)</p> Signup and view all the answers

<p>A variation in the number of copies of a specific DNA segment. (B)</p> Signup and view all the answers

<p>A tandem repeat of a short DNA sequence. (D)</p> Signup and view all the answers

<p>To create their own reverse transcriptase for replication. (C)</p> Signup and view all the answers

<p>Trisomy (A)</p> Signup and view all the answers

<p>It possesses repetitive rRNA sequences on one end. (B)</p> Signup and view all the answers

<p>CAAT &amp; TATA boxes (A)</p> Signup and view all the answers

<p>47,XX (D)</p> Signup and view all the answers

<p>Centromere (A)</p> Signup and view all the answers

<p>Introns (B)</p> Signup and view all the answers

<p>A pathogenic mutation affecting splicing (C)</p> Signup and view all the answers

<p>An insertion or deletion of nucleotides that alters the reading frame. (A)</p> Signup and view all the answers

<p>Mutation of splice donor site of intron 1 (B), Mutation of the splice acceptor site of exon 2 (D)</p> Signup and view all the answers

<p>VNTR (A)</p> Signup and view all the answers

<p>One X-chromosome is deactivated (A)</p> Signup and view all the answers

<p>Nuclear pores (A)</p> Signup and view all the answers

<p>Trisomy (D)</p> Signup and view all the answers

<p>To direct the protein to the mitochondria (D)</p> Signup and view all the answers

<p>A non-sense mutation within exon 1 (D)</p> Signup and view all the answers

<p>Alteration of mRNA size (A)</p> Signup and view all the answers

<p>Mutation of splice donor site of an intron (A)</p> Signup and view all the answers

<p>No effect on mRNA length (C)</p> Signup and view all the answers

<p>Non-sense mutation (B)</p> Signup and view all the answers

<p>Frame-shift mutation (C)</p> Signup and view all the answers

<p>Position correlating to the preceding exon (C)</p> Signup and view all the answers

<p>Protein trafficking (C)</p> Signup and view all the answers

<p>Mutation of the splice acceptor site of an exon (A)</p> Signup and view all the answers

<p>5 – 10 Mb (C)</p> Signup and view all the answers

<p>Frameshift mutation (A)</p> Signup and view all the answers

<p>They have very short p arms and long q arms (C)</p> Signup and view all the answers

<p>A chromosome with two centromeres (C)</p> Signup and view all the answers

<p>It is acentric and not stable (A)</p> Signup and view all the answers

<p>They are found on the q arm, adjacent to the centromere (B)</p> Signup and view all the answers

<p>Both arms are of different lengths (C)</p> Signup and view all the answers

<p>Trisomy (B)</p> Signup and view all the answers

A prenatal test that helps identify chromosomal abnormalities such as trisomy.

A chromosome with the centromere located near one end, creating unequal arm lengths.

A genetic condition resulting from mutations in β-globin genes, affecting hemoglobin production.

A chromosomal condition characterized by an extra chromosome 21, represented as 47,XX.

The site where spindle fibers attach to chromosomes during cell division, located at the centromere.

Portions of a gene that are not translated into protein, including introns and promoters.

A genetic change that has been proved or predicted to adversely affect an organism's function.

A genetic change affecting the proper splicing of RNA, potentially leading to dysfunctional proteins.

A laboratory technique that stains chromosomes to reveal banding patterns for identification of abnormalities.

The loss of a segment of DNA from a chromosome, affecting the banding pattern if over 5 Mb.

A genetic condition where an individual has three copies of a chromosome instead of two.

A type of mutation involving the replacement of one base pair with another.

A mutation resulting from the insertion or deletion of bases, changing the reading frame.

A mutation that results in a gene being copied, potentially visible on a karyotype in some cases.

A chromosome with the centromere located in the middle, leading to arms of equal length.

The process by which genes are turned on to produce RNA and proteins.

The process of directing proteins to their specific cellular locations, like mitochondria.

A specific amino acid sequence in proteins that targets them to mitochondria.

mRNA that has an abnormal size or sequence due to mutation or splicing errors.

The sequence at the start of an intron that signals where splicing begins.

The sequence at the end of an intron that indicates where splicing ends.

The process of modifying RNA molecules after they are transcribed, altering their function.

An abnormal size of mRNA transcript due to genetic mutations.

A change at the beginning of an intron that affects mRNA splicing.

A method used to analyze an individual's DNA characteristics.

Studying DNA to determine the potential father of a child.

A short DNA sequence repeated multiple times in a row.

Process where one X-chromosome in females is turned off.

Highly polymorphic sequences of di, tri or tetra nucleotides repeated in tandem.

Tandem repeats larger than SSR, consisting of repeat sequences up to several hundreds of nucleotides.

Large, highly similar repetitive sequences found in few places in the genome.

Mechanism ensuring equal gene expression levels from X-chromosomes in males and females.

A pattern of DNA bands that can identify individuals based on their unique genetic makeup.

Short Sequence Repeats that are inherited and can be tracked through co-dominance.

The likelihood that an individual is the biological father based on DNA markers.

Locations on DNA that contain variations, allowing for analysis of genetic diversity.

Single Nucleotide Polymorphism, a common variation at a single nucleotide position in DNA.

Copy Number Variant, indicating variations in the number of copies of a particular gene.

Variable Number Tandem Repeats, sequences in DNA where a short nucleotide motif is repeated multiple times.

DNA sequences (LINE and SINE) that are repeated and scattered throughout the genome.