Block1 Flashcards by Nick Weber

Mendels 3 Laws of Heredity

Uniformity
Segregation
Independent assortment

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2 scientists recognized alkaptonuria

Bateson and Garrod

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Fathers of medical genetics

Victor McKusick- recognized single gene disorders

Arno Motulsky

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Transforming principle founded by

Fredrick Griffith

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3 scientists identified DNA as genetic material

Avery, McCarty, MacLeod

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% of genome that codes for protein

1.5%

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Meconium ileus and chronic lung disease/infertile males are characteristics of

Cystic fibrosis

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Duchenne Muscular Dystrophy (DMD)

Delayed motor milestones, clumsy,
Uses Gower’s maneuver
X linked recessive

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Haemophilia is transferred as

X link recessive

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Sickle cell trait is…

Autosomal dominant

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Enzyme that degrades cohesion

Separase

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Recombination occurs during which phase of meiosis

Meiosis 1 prophase 1

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Stimulates T-division for preparing a karyotype

Phytohaemagglutinin

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Drug that prevents spindle formation so cells arrest in metaphase

Colchicine

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Karyotype preparation for slide

Chromosomes are denatured with trypsin and DNA stained with Giemsa

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22q11 deletion syndromes

DiGeroge Syndrome. Hear murmur. Ventricular septal defect, delayed milestones. Autosomal dominant

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% of Down syndrome that have robertsonian translocations

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Trisomy 13 characteristics

Patau syndrome
Microcephalic
Cleft lip/palate

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Trisomy 18

Edwards syndrome 
Low set ears/short neck
Overlapping fingers 
Microcephalic 
Rocker bottom feet

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4p deletion

Wolf-Hirschhorn syndrome

Microcephalic, seizures

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5p deletion

Cri du chat syndrome
Cat like cry
Epicanthic folds

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Covalent bonds are____x stronger than weak other chemical bonds

20 times

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Absorption by proteins is maximal at what wavelength? DNA/RNA?

Proteins: 280 nm

DNA/RNA: 260 nm

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Arginine letter representation

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Asparagine letter representation

Aspartate letter representation

Glutamate letter representation

Glutamine letter representation

Lysine letter representation

Phenylalanine letter representation

Tyrosine letter representation

Tryptophan letter representation

Alpha helix is destabilized by which amino acid?

Proline

Amino acid not present in alpha helices because it allows too much flexibility

Glycine

How are beta sheets oriented | Rich in what amino acids

Beta turn is 180 degrees turn involving 4 amino acids and one H-bond between peptide bonds 2 amino acids apart. Rich in proline and glycine

BLAST means.... | What does the plus sign mean in this program

Basic local alignment tool | + sign: conservative amino acid substitution

Ortholog genes

Genes in different species that have evolved from a common ancestor

Paralog genes

Imperfect copies of genes within a species

Sieving medium in gel electrophoresis of proteins

Polyacrylamide

Sieving medium for DNA in gel electrophoresis

Agarose

Protein is unfolded by what 2 compounds in gel electrophoresis

Sodium dodecyl suphate (SDS) and mercaptoethanol

How is the pl of a protein determined?

By the total of the charges R groups and the terminal amino and carboxyl group

What are ampholytes

Mixture of polyanoic and polycationic molecules

Proteomics involves the combination of

Isoelectric focusing and SDS Polyacrylamide gel electrophoresis

Spindle microtubules attach here

Centromeres of Satellite DNA

DNA fingerprinting was originally based on

Minisatellite DNA

SINE's are...

Short INterspersed Elments: Alu fragments 300 bp about 13% of genome

LINE's are....

Long INterspersed Elements: L1 elements of 900 bp long about 21% of genome

Relaxed DNA has ___ bases per turn

10.5

How to achieve linking number Lk

Length of DNA molecule divided by the number of bases per turn

Type I topoisomerases

Nick the DNA and do not require energy

Type II topoisomerases

Make double stranded cuts and require ATP

Gyrase

Induces negative super oils in bacteria

Cleaving action of topoisomerase I residue

Tyrosine residue attacks phosphodiester bond

Gyrase inhibitor

Quinolones

Nucleosome base pair length

146

Histone proteins are rich in what positively charged residue?

Arginine and Lysine

Acetyl groups attach to

N-termini removing positive charge on K and R therefore relaxing DNA

Methyl groups attach to

N-terminal domains of CpG sequences

Type I topoisomerase is a target for

Antitumor drugs

Micro satellite DNA

CA-repeats

The major groove is distinguished from the minor groove in B-DNA by

The non-symmetrical glycosidic bonds in the opposite strands

Restriction enzymes and transcription factors recognize what kinds of repeats in DNA?

Palindromic repeats

Methylated guanine pairs with

Thymine

Formation of pyrimidine dimers is caused by

UV damage

DNA polymerases are ___ enzymes because

Processive enzymes: binds and carries out many reactions before dissociating

Distributive enzymes

Bind to substrate, catalyze reaction, dissociate

Origins of replication are rich in what sequence in bacteria

GATC

DnaB protein in bacteria

Helicase activity

DnaA protein in bacteria

Bonds to four 9bp repeats and denatures DNA in the region of the three 13 bp repeats

RNA primers are removed by (bacteria)

5'-3' exonuclease activity

RNA primers are removed by (eukaryotes)

Displacement and clipping

Protein required for MCM binding

Cdc6 -matchmaking factor

Replicative cell senescence

Chromosomes become shorter by losing telomeres repeats every replication cycle

Repeats added to the chromosome ends at germ cell state by

Telomerase

RNA component of telomerase is codes for by

TERC gene

Mismatches or loops are recognized by

MutS/MutL dimers

Cleaves the Unmethylated DNA strand in the vicinity of a mismatch

MutH

In Nucleotide excision repair, the region is unwound by

XPB and XPD, which are DNA helicases

Xeroderma pigmentosum

Autosomal recessive, problem with nucleotide excision repair, 7 genes

Cockayne syndrome

Disease of the transcription-coupled NER. Autosomal recessive, arrested growth, genes CSA and CSB

3 major causes of double stranded breaks in DNA

Oxygen radicals DNA replication of damaged DNA Anticancer agents such as bleomycin

Repair of double stranded DNA breaks

Ring-shaped Ku protein that binds to double stranded breaks followed by DNA dependent protein kinases.

What type of DNA ligase joins broken ends together that was phosphorylated by a kinase for double stranded breaks

DNA ligase type IV

Proteins involved in familiar breast cancer repair

BRCA1 and BRCA2