Genetics Projects Diseases

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Phenotype of Hereditary Hemochromatosis

Back 1

Excessive iron absorption and deposition, leads to organ damage if untreated.

Front 2

What is the gene involved in Hereditary Hemochromatosis

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HFE gene (chrom 6)

C282Y and/or H63D mutations

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Mode of inheritance of Hereditary Hemochromatosis

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Recessive but some homozygous some compound hetero

Reduced penetrance (more men than women)

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Confirming test for Hereditary Hemochromatosis

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Transferrin saturation test, genetic test not 100% accurate due to reduced penetrance

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Treatment for Hereditary Hemochromatosis

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Phlebotomy, iron chelation, diet

Front 6

Phenotype of Familial Hypercholesterolemia

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Inability to internalize and digest LDL cholesterol, leads to cardiac probs and atherosclerosis

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The gene involved in Familial Hypercholesterolemia

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Over 800 different mutations that affect LDLR gene. APOB , gene also implicated

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Mode of inheritance of Familial Hypercholesterolemia

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Autosomal dominant

(homo more severe, very rare)

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Confirming test for Familial Hypercholesterolemia

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Yes but not that effective

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Treatment for Familial Hypercholesterolemia

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Statins (HMG CoA reductase inhibotors, stip making new cholesterol), bile acid sequesterants

Front 11

Phenotype of MERRF

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Lack I and IV complexes in mitochondrial membrane, deficient ATP production. Muscle weakness, ataxia, epilepsy.

Front 12

Gene involved in MERRF

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A8344G point mutation in MT-TK mitochondrial gene, lysine tRNA has mutation at wobble position, lysine can’t be added.

Front 13

Mode of inheritance of MERRF

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Heteroplasmic (maternal inheritance only) Threshold level for effect.

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Test for MERRF

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No test because of heteroplasmic inheritance

Front 15

Treatment of MERRF

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Coenzyme Q10 (ubiquinone that helps with electron transport)

Front 16

Phenotype of Fragile X

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Neuronal synapse dysfuction, mental disability and often behavioral problems, long face, large ears, loose connective tissue and large testes in males.

Front 17

Gene involved in Fragile X

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trinucleotide repeat (CGG) in FMR1 gene on X chrom. Repeat of 200, promoter region gets hypermethylated, inactive

Front 18

Mode of Inheritance of Fragile X

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X-linked dominant. Triplet expansion (anticipation) affects more men than women (hemizygous vs homozygous)

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Definitive test for Fragile X

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Phenotype not seen early on. Southern Blot (approx size of mutation) and PCR (exact # repeats)

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Treatment of Fragile X

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Mostly behavioral therapy, SSRIs and anti-psychotics

Front 21

Phenotype of Familial Breast Cancer

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Increase in susceptibility to breast cancer

Front 22

Gene involved in Familial Breast Cancer

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BRCA1 (17q21) and BRCA2 (13q12) are tumor suppressor genes (DNA repair) that get mutated and don’t function

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Mode of inheritance for Familial Breast Cancer

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Breast cancer is multifactorial; mutation inherited as autosomal dominant

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Definitive test for Familial Breast Cancer

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Genetic tests available, reliable

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Treatment for Familial Breast Cancer

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Mastectomy, tamoxifen chemoprevention, Cisplatin

Front 26

Phenotype of Cystic Fibrosis

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Thick sticky mucous accumulates, occludes ducts; lung infections, pancreas malfunciton primarily

Front 27

Gene involved in Cystic Fibrosis

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CFTR gene 7q31; controls chloride transport across cell membrane (ABC transporter !!!) most common mutation: deletion Phe 508

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Mode of inheritance for Cystic Fibrosis

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Autosomal recessive, over 1000 mutations associated

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Definitive test for Cystic Fibrosis

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Best when known familial CF. IRT test for newborns will be mandatory. Then sweat and DNA tests if IRT is positive. DNA not too useful (many mutations)cause disease. Sweat test is diagnostic

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Treatment for Cystic Fibrosis

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Chest percussion, antibiotics, lung transplantation