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KHS Biology Unit 9 Human Genetics

Terms in this set (21)

autosomes
"regular", non-sex chromosomes. 22 homologous pairs (44) in humans.
sex chromosomes
chromosomes involved in sex determination. X and Y are not homologous, but pair during meiosis.
XX
sex chromosome genotype of human females
XY
sex chromosome genotype of human males
sperm cells
have either X or Y chromosomes and 22 autosomes
egg cells
have only X chromosomes and 22 autosomes
non-disjunction
"not coming apart". Error occurring during anaphase I or II of meiosis when chromosomes or chromatids fail to separate. Results in gametes which produce zygotes with chromosome number disorders
chromosome number disorder
Chromosome mutation where there are either too many or too few chromosomes. Visible in karyotypes.
gene mutation
mutations happening in single genes that are not visible in karyotypes
karyotype
-a picture of all of a cell's chromosomes lined up in an orderly fashion
-can be used to determine gender of unborn child, and to determine if a chromosome number disorder is present
how to make a karyotype
1. Stop cells during mitosis
2. Take a picture of the cell/chromosomes under the microscope
3. Cut out the chromosomes from the picture and pair them and line them up from largest to smallest, (except sex chromosomes go at the end)
Turner Syndrome
Chromosome number disorder involving females only having one X chromosome (also called 45 XO)
Klinefelter Syndrome
Chromosome number disorder involving males with TWO X chromosomes and one Y chromosome. (47 XXY)
Down Syndrome
Chromosomal number disorder involving the presence of an extra chromosome 21. "Trisomy 21."
Type A Blood
The phenotype caused by the AA or AO genotypes
Type B Blood
The phenotype caused by the BB or BO genotype
Type AB Blood
The phenotype caused by the AB genotype
Type O Blood
The phenotype caused by the OO genotype (homozygous recessive)
ABO Blood type alleles
A and B are codominant alleles, while O is recessive
pedigree
A diagram showing the genetic relationships between individuals and used to follow genetic traits.
Banding pattern on chromosomes
Due to the genes present on the chromosome
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