Genetics and Human Genetic Disorders

This flashcard set covers Mendelian genetics, inheritance patterns like incomplete dominance and codominance, human blood groups, sex-determination systems, and specific genetic disorders including Cystic Fibrosis, Sickle Cell Anemia, and Huntington's Disease.

Who authored the sample pedigree provided for schizophrenia and related disorders?

Tsuang, et al., 2000

In a monohybrid cross between a homozygous green leaf tobacco plant ($G$) and a gold leaf plant ($g$), what is the phenotype of the $F1$ generation?

Green leaf

If the ability to curl one's tongue is dominant ($T$), and a father can curl his tongue but has a son who cannot, what is the father's genotype?

$$Tt$$

How is incomplete dominance defined?

A pattern of inheritance where the phenotype has an appearance between the two dominant phenotypes.

In the case of human hypercholesterolemia, what phenotype is associated with the heterozygous genotype ($Hh$)?

Mild disease

What are the three genotypes possible for hypercholesterolemia according to the notes?

$HH$ (Homozygous for ability to make LDL receptors), $Hh$ (Heterozygous), and $hh$ (Homozygous for inability to make LDL receptors)

What is codominance?

A condition where both dominant alleles are expressed, such as in blood types reflect antigens on the cell surface.

What are the possible genotypes for an individual with Blood Group A?

$I^{A} I^{A}$ or $I^{A} i$

Which antibodies are present in the blood of an individual with Blood Group O?

Anti-A and Anti-B

What are the three sex-determination systems mentioned besides the $XY$ system?

The X-O system, the Z-W system, and chromosome number.

In fruit flies, which eye color allele is dominant?

Red eyes ($R$) are dominant over white eyes ($r$).

What is the median age of survival for Cystic Fibrosis in $2002$?

$33.4$ years

How many Americans are estimated to carry the sickle cell trait?

About $2,000,000$ Americans

What causes the pain symptoms associated with sickle cell anemia?

Sickle-shaped red blood cells block the flow of blood and oxygen to an organ or joint.

How is 'chronic pain' defined in the context of sickle cell anemia?

Pain that usually lasts $3$ to $6$ months or longer.

What biological degeneration causes Huntington's Disease (HD)?

Genetically programmed degeneration of brain cells called neurons in certain areas of the brain.

Does Huntington's Disease (HD) skip generations?

No; if you do not get it, you cannot pass it on to offspring.

How many Americans currently have Huntington's Disease (HD)?

Approximately $30,000$

What are some physical symptoms of Huntington's Disease?

Unsteady gait, involuntary movements, slurred speech, and difficulty in swallowing.

What is the carrier frequency of Cystic Fibrosis among Caucasians?

$1$ in $28$

In the Z-W system of sex determination, what are the sex chromosome configurations?

$ZZ$ and $ZW$