Gene Mapping - case study of CF Flashcards

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1
Q

Deletion mapping

A

A homozygous recessive individual is crossed with an individual heterozygous for a deletion. If the gene is in the deleted region, half of the progeny will display the phenotype. If not, all will be wild type.

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2
Q

Heterokaryon

A

Human fibroblasts fused with mouse tumor cells. Results in loss of different human chromosomes.

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3
Q

Clinical aspects of cystic fibrosis (9)

A
  • Predominantly affects northern Europeans
  • Affects epithelia in several organs: pancreas, intestine, respiratory tract, male genital tract, hepatobiliary system, and the exocrine sweat glands.
  • Pulmonary disease is the major cause of morbidity and mortality in CF: airway inflammation and chronic endobronchial infection.
  • Liver disease: elevation of liver enzymes in serum
  • Patients with pancreatic sufficiency (<10%) have a milder clinical course with greater median survival (i.e., 56 years) than those with pancreatic insufficiency.
  • Median survival in 2003 was 26.9 years
  • Variability of disease expression due to varying severity of CFTR mutations, genetic modifiers, and environmental factors.
  • More than 95% of males with CF are infertile
  • Women with CF are fertile
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4
Q

Haplotype

A

Combination of SNPs commonly found together - can be used to map disease genes

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5
Q

RFLP

A

Restriction fragment length polymorphism - polymorphism that results in different sized fragments when cut by a restriction enzyme

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6
Q

VNTR

A

Variable number of tandem repeats (minisatellite) - 10-60 bps

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7
Q

STR

A

Short tandem repeat (microsatellite) - 2-6 bps

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8
Q

LOD Score

A

Logarithm of Odds scores - measures recombination between a marker and a disease gene
likelihood of non-random segregation divided by likelihood of random segregation
LOD 3 = 1000:1 odds, significant level

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9
Q

Steps to finding a gene

A

Identify the region using markers

Identify the coding region using promoter and splice site pattern recognition

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10
Q

in silico mapping

A

Map using genome databases on a computer

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11
Q

Proofs of association and causality

A

Compare affected and unaffected individuals by RNA size or quantity, or any mutations

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12
Q

Retrovirus

A

RNA virus that have been integrated into the host genome using reverse transcriptase

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