Molecular Biology and Genetics - GRE Subject Test: Biochemistry, Cell, and Molecular Biology

Down syndrome is also referred to as trisomy 21. In about one in every 900 births, the child has an extra copy of the 21st chromosome.

Klinefelter syndrome is the result of a male being born with two X chromosomes and one Y chromosome. A deletion on the short arm of chromosome 5 causes Cri-Du-Chat syndrome; these children have respiratory problems and distinctive facial features. Williams syndrome is the result of genetic material missing from chromosome 7—in particular the gene for elastin, which causes disorders of the circulatory system and heart. A missing or incomplete X chromosome causes Turner syndrome. People who have Turner syndrome develop as females.

About newborns have a chromosomal abnormality, whether due to inheritance or as a result of meiotic events such as nondisjunction.

Nearly half of all spontaneously aborted pregnancies are due to chromosomal abnormalities. This includes aneuploidy (an excess or loss of 1+ chromosomes), deletions (a loss of a piece of a chromosome), and translocations (the transfer of one chromosome piece to another).

DNA exists in the condensed chromatin form in order to fit into the nucleus. Negatively charged DNA loops twice around positively charged histone proteins to form a nucleosome bead. This nucleosome core is made up of two proteins each of histones H2A, H2B, H3 and H4.

H1 is the only histone protein that is not in the nucleosome core, and ties the nucleosome beads together in a string. H1 is located on the nucleosome exterior and help link DNA to the other proteins of the histone structure.

Telomeres are located at the ends of chromosomes and primarily serve the function of protecting the chromosome from degradation and fusion with neighboring chromosomes. The centromere is the site of attachment of two sister chromatids. Telomeres are not proteins; they are simply specialized portions of DNA. The sex chromosomes contain telomeres, but are only known as the sex chromosomes, allosomes, or chromosome 23.

Telomeres are the non-coding terminal ends of chromosomes, which help maintain the integrity of the chromosome and prevent it from being degraded. During normal DNA replication, the ends of the telomeres are not replicated and, therefore, must be lengthened by a different process. Telomerase is an enzyme that uses reverse transcription to extend the telomere.

Centromeres are the regions of chromosomes that link sister chromatids. Extendase function is observed in some polymerases, and involves extending the DNA strand beyond the template (typically by the addition of an adenine nucleotide).

The only choice that involves a process that uses reverse transcription is the lengthening of telomeres. Telomerase is an enzyme that uses reverse transcription to extend telomeres after replication. mRNA splicing and post-translational modifications do not directly use the process of reverse transcription.

If the diploid number is 116, haploid number in the gamete. Subtract 2 sex chromosomes, gives 56 autosomes in the gamete. This required knowing the distinction between autosomes and sex chromosomes and remembering to work from the haploid number since we are asked how many autosomes are in a gamete, not in an adult.

The alleles on the chromosome are not the same. The gene loci is the same, but which allele a chromosome carries depends on the donor. For example, if the maternal parent had blue eyes and the paternal parent had green eyes, then at the gene for eye color there could be 2 different alleles in their progeny.

During interphase, DNA is complexed with protein into a structure called chromatin. Euchromatin refers to chromatin that is loosely packed. Heterochromatin refers to chromatin that is highly condensed, and largely unavailable for transcription.

Translesion DNA synthesis is a technique used by both prokaryotes and eukaryotes. The main purpose of translesion DNA synthesis is to bypass lesions encountered during DNA replication (commonly thymine dimers or AP sites). Translesion DNA synthesis is not exclusive to the mitochondria, nor does it create specialized RNA molecules.

UV light causes the formation of thymidine dimers. A thymidine dimer is two thymine molecules that dimerize and cannot be recognized by the DNA transcription machinery, which would cause a mutation in the gene if the dimerization occurs on a gene.

Base excision repair and direct reversal only work on individual bases on the DNA molecule. Nucleotide excision repair cuts out a section of damaged DNA and repolymerizes the molecule, as would be required in this case.

Unrepaired doublestrand breaks will result in collapse of the DNA fork because the replication fork cannot continue beyond the area that has the doublestrand break. The other answers require the presence of at least one continuous strand of DNA.

The correct answer is abortive initiation. This is a normal transcription event is found in both prokaryotes and eukaryotes and occurs prior to promoter clearance, or the event when RNA polymerase escapes the promoter and begins elongation of synthesized transcripts. Abortive initiation is thought to occur when the RNA polymerase complex is not stable enough on the DNA. DNA scrunching describes the mechanism by which RNA polymerase transcribes, rather than RNA polymerase moving along DNA, it actually pulls DNA into the complex and unwinds it.

The correct answer is Holliday junction. These intermediates in genetic recombination have symmetrical sequence and are mobile to preserve specific base pairing at recombination and damage loci. Repair enzymes recognize and subsequently localize to this DNA structure to facilitate locus specific enzymatic activity.

The correct answer is non-homologous end joining repair. This type of DNA repair is more common than homology-directed repair which repairs damaged DNA by using a homologous template. Homologous recombination is a specific type of homology-directed repair. V(D)J recombination is a form of genetic recombination that occurs in developing lymphocytes to give rise to diverse antibodies. Selective autophagy is the selective removal of damaged proteins from the cell following a stress event such as heat exposure.

The correct answer is non-homologous end joining DNA repair. This specific DNA ligase joins the double stranded phosphodiester bond break in DNA by consumption of ATP, however, this repair mechanism often times is error prone and results in indels (insertion/deletion mutations). Homology directed DNA repair and homologous recombination are very similar processes that rely on template sequences to "swap" DNA sequences with other parts of the genome, however, they do not rely on this ligase. DNA ligase IV does not have a role in DNA replication.

Primase synthesizes RNA primers for DNA polymerase to bind to and initiate DNA replication.

DNA synthesis requires a free 3' hydroxyl (-OH) group to add the next nucleotide base. Drugs that block DNA replication often have a modified 3' hydroxyl group, which prevents the addition of the next nucleotide and results in chain termination.