8/7/17 Flashcards
Trisomy 18
Edwards Syndrome
Trisomy 13
Patau Syndrome
Cleft lip or palate
De Lange Syndrome
Mutations in different genes associated with cohesion process
short, abnormal limbs and face
Turner Syndrome
45, X
Short, loss of ovarian function, webbed neck
Klinefelter Syndrome
47, XXY
Small testes, less testosterone, breast problems, learning disabilities
Reciprocal translocation
Exchange chromosomal material between nonhomologous chromosomes
Robertsonian translocation
Translocation between 2 Afrocentric chromosomes (13-15, 21,22) by fusion at the centromere
Karyotype
Culture cells, arrest in metaphase, stain slide, use microscope, and then computer to sort
Stillbirths, weird sex combos, aneuploidy, neoplasticism conditions, translocations, deletions, inversions
No uniparental disomy, methylation and limited resolution
Down syndrome
FISH
Fluorescence in situ hybridization
Fluorescent probe hybridized to target DNA
Identify unique or repetitive sequences, same as karyotype, mosaicism quantification, works on uncultured cells like amniotic fluid
Must suspect a TARGET, not detect uniparental disomy or methylation changes, limited by resolution and size of probe
Array Comparative Genomic Hybridization
Array CGH
Have labeled target DNA and control DNA attach to oligonucleotide probe and compare intensity
Detects CNVs, deletions, duplications, chromosome gains and loses, not targeted like FISH
No balanced rearrangements like translocations or inversions, UPD, methylation changes, limit to resolution, not work on centromere cuz repetitive there
Williams Syndrome , neoplasticism conditions
Williams Syndrome
Speech start bad but get better later, develop delay, slight retard, feeding issues for baby, party personality, unique face
1.4 Mb deletion of elastin gene on Chromosome 7
Polymerase Chain Reaction
Template DNA, Mg, DNA polymerase, primers, dNTPs
Denature by heat, anneal by cooling to let primers h-bond with targeted sequence, extension by DNA Pol
Detect UPD and methylation
Deletions can be a problem
Use: DNA amplification, crime scenes and dad test work by microsatellite analysis
Sanger Sequencing
Chain terminating sequencing
PCR amplify with ddNTPs fluorescent labels, electrophoresis and laser detect
Detect small alterations
Achondroplasia
SNPs affect PCR, expensive
Achondroplasia
Achondroplasia
Dwarfism
Trident hands, autosomal dominant, change in single nucleotide
Multiple Probe Ligation Amolification
Detects deletions or duplications of one exon
No methylation or translocations or inversions
Denature and hybridize two PCR primer sequence probes to DNA sequence, will ligate if bind, do PCR of primer X and Y
Duchenne Muscular Dystrophy
