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[h] Biochemistry Flashcards

[i] Master this session in just 5 minutes.

[q] Which mode of inheritance have the following features?

– Because affected individuals must receive a disease-causing gene from an affected parent, the disease is typically observed in multiple generations of a pedigree.

– Because these genes are located on autosomes, males and females are affected in roughly equal frequencies.

– The dominant allele is shown in uppercase (A) and the recessive allele is shown in lowercase (a).

– The typical mating pattern is a heterozygous affected individual (Aa genotype) mating with a homozygous normal individual (aa genotype).

– The recurrence risk is thus 50%, and half the children, on average, will be affected with the disease.

– Common Examples: Familial hypercholesterolemia (LDL receptor deficiency), Huntington disease, Neurofibromatosis type 1, Marfan syndrome and Acute intermittent porphyria.

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[q] Which mode of inheritance have the following features?

– The offspring must inherit one copy of the disease-causing allele from each parent.

– Typically seen in only one generation of a pedigree (skipped generation).

– Males and females are affected in roughly equal frequencies.

– Most commonly, a homozygote is produced by the union of two heterozygous (carrier) parents. The recurrence risk for offspring of such matings is 25%.

– ↑ risk in consanguineous families.

– Common Examples: Sickle cell anemia, Cystic fibrosis, Phenylketonuria (PKU), Tay-Sachs disease (hexosaminidase A deficiency).

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[q] Which mode of inheritance have the following features?

– Skipped generations are seen.

– Seen much more commonly in males than in females.

– Male-to-male transmission is not seen.

– Common examples: Duchenne muscular dystrophy, Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase [HGPRT] deficiency) Glucose-6-phosphate dehydrogenase deficiency, Hemophilia A and B.

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[Qq]

[q] Which mode of inheritance have the following features?

– The disease phenotype is seen in multiple generations of a pedigree; skipped generations are relatively unusual.

– Male-male transmission of the disease-causing mutation is not seen.

– Heterozygous females are affected.

– Transmitted through both parents. Mothers transmit to 50% of daughters and sons; fathers transmit to all daughters but no sons.

– Common examples: Hypophosphatemic rickets, Fragile X syndrome.

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[Qq]

[q] Which mode of inheritance have the following features?

– Transmission of the disease is only from a female.

– All offspring of an affected female are affected.

– None of the offspring of an affected male is affected.

– Diseases are typically neuropathies and/or myopathies.

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[q] ……… describes the condition of having different organellar genomes (mutated and wild-type) within a single cell. For mitochondrial diseases, patients with more severe disease are those with a higher proportion of defective mitochondrial genomes within their cells.

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