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Ch.14 The Human Genome
Sec. 1 Human Heredity
26
Biology
9th Grade
04/20/2010

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Term
karyotype
Definition
photograph of chromosomes grouped in order in pairs
Term
sex chromosome
Definition
one of the two chromosomes that determine an individual's sex
Term
autosome(austomal chromosomes)
Definition
chromosome that is not a sex chromosome
Term
pedigree
Definition
chart that shows the relastionships within a family
Term
Human Karyotype
Definition
-46 chromosomes
-result of a haploid sperm, and egg coming together to form a diploid sygote (or fertilized egg)
Term
Sex Chromosomes
Definition
-Females have two copies of a large X chromosome
-Males have one X and one small Y chromosome
Term
Total Number of Chromosomes
Definition
46, XX: females
46, XY: males
Term
*
Definition
All human egg cells carry a single X chromosome (23,X). However, half of all sperm cells carry an X chromosome (23,X) and half carry the Y chromosome (23,Y) This ensures that just about half the zygotes will be 46,XX and half will be 46,XY
Term
Genes and the Environment
Definition
some of the most obvious human traits are almost impossible to associate with single genes
Term
Best known genes responsible for blood groups
Definition
ABO, Rh
Term
Rh Blood Group
Definition
-is determined by a single gene with two alleles-positive and negative.
-Rh stands for rhesus monkey
-(Rh+) is dominant
Term
ABO Blood Groups
Definition
I^A, I^B, i
I^A, I^B: codominant
i: recessive

I^A I^A or I^Ai -- Type "A"
I^B I^B or I^Bi -- Type "B"
ii-- Type "O"
I^a and I^b -- Type "AB"
Term
How have human genes become known?
Definition
Through the study of genetic disorders
Term
Albinism
Definition
-disorder caused by recessive allele
Symptoms: Lack of pigment in skin, hair, eyes
Term
Cystic fibrosis (CF)
Definition
-disorder caused by recessive allele
-reccesive allele on chromosome 7
Symptoms:Excess mucus in lungs, digestive tract, liver;increased susceptibility to infections
Term
Galactosemia
Definition
-disorder caused by recessive allele
Symptoms: Accumulation of galactose (a sugar) in tissues; mental retardation; eye and liver damage.
Term
Phenylketonuria (PKU)
Definition
-disorder caused by recessive allele
-autosomal reccesive allele on chromosome 12

Symptoms: Accumulation of phenylalanine in tissues; lack of normal skin pigment; mental retardation
Term
Tay-Sachs disease
Definition
-disorder caused by recessive allele
Symptoms: Lipid accumulation in brain cells; mental deficiency; blindness; death in early childhood
Term
Achondroplasia
Definition
-disorder caused by dominant alleles
Symptoms: Dwarfism (one form)
Term
Huntington's disease
Definition
-disorder caused by dominant alleles
Symptoms(usually appear in middle age): Mental deterioration and uncontrollable movements
Term
Hypercholesterolemia
Definition
-disorder caused by dominant alleles
Symptoms: Excess cholesterol in blood; heart disease
Term
Sickel cell disease
Definition
-disorder caused by codominant alleles
Symptoms: Misshappen, or sickled,red blood cells; damage to many tissues
Term
Two genetic disorders caused by autosomal dominant alleles
Definition
Achondroplasia
Huntington'sdisease
Term
Genetic disorders caused by codominant alleles
Definition
Sickel Cell disease
Term
**
Definition
In both cystic fibrosis and sickel cell disease, a small change in the DNA of a single gene affects the structure of a protein, causing a serious genetic disorder.
Term
What makes an allele dominant, recessive, or codominant?
Definition
It depends on the nature of a genes protein product and its role in the cell
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