Term
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Definition
| Genes which are located on the X chromosome |
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Definition
| Genes which are located on the Y chromosome |
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Definition
| from a father to all of his sons |
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Term
| If a woman shows a sex linked recessive trait |
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Definition
| all of her sons must show it, her father must show it |
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Term
| If a daughter shows a sexlinked recessive trait which parents must show it? |
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Definition
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Term
| If a son shows a sex linked recessive trait, do either of his parents have to show it? |
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Definition
| No his mother could be heterozygous |
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Term
| If a father shows a sex linked recessive trait, must any of his children show it? |
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Definition
| No, sons could get a normal X from their mother, daughters could be heterozygous |
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Term
| If a father shows a sex linked domanant trait,what pattern must you see in the pedigree? |
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Definition
| all of his daughters must show the trait |
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Term
| If a son shows a sex linked dominant triat, what pattern must you see in the pedigree? |
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Definition
| his mother must show the trait |
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Term
| Can a mother show a sex linked dominant trait and have normal children? |
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Definition
| Yes, she can pass on her other x chromosome (may be heterozygous) |
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Term
| If a daughter shows a sex linked dominant trait, must either parent show it? |
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Definition
| yes, one of the m must, but it could be either one (she has two XX's) |
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Term
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Definition
Genes which are present in a single dose
Ex: Sex Linked genes in males |
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Term
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Definition
| a medium sized metacentric chromosome with little heterochromatin |
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Term
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Definition
| a small acrocentric chromosome which is mostly made up of heterochromatin |
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Term
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Definition
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Term
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Definition
Sex linked recessive
very slow formation of blood clots |
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Term
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Definition
| a group of disease, some autosomal recessive some sex linked |
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Term
| Duchenne's muscular dystrophy |
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Definition
X linked and recessive
child climbs up themself |
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Term
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Definition
a group of genetic diseases of the skin
scaling dryness |
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Term
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Definition
| red green color blilndness means that a person cannot distinguish shades of red and green. Males are 16x more affected than females because the gene is located on the X chromosome |
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Term
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Definition
X linked recessive
defect in purine matabolism, high levels of uric acid, mental retardation, compulsive self mutalation starts at 2-4 years old.
Amniocentesis can detect |
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Term
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Definition
| takes amniotic fluid to get fetal cells and test it for it's karyotype, done on pregnant woman |
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Term
| Mitochondrial Inheritance |
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Definition
Follows maternal lineage
transmitted through the mother
Leber's optic neuropathy
MELAS syndrome,
MERRF syndrome |
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Term
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Definition
| sperm head enters secondary oocyte, completes meiosis, nuclei join and it's a zygote |
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Term
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Definition
| cells divide into many cells forming a blastocyst |
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Term
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Definition
| cells have divided into many cells forming this |
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Term
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Definition
| cells have specialized into three layers (ectoderm, endoderm, mesoderm) |
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Term
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Definition
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Term
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Definition
| agents that produce abnormalities during the course of development |
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Term
| Fetal Alcohol Syndrome (FAS) |
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Definition
| a constellation of birth caused by drinking during pregnancy |
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Term
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Definition
| sexual determination in humans |
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Term
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Definition
| producing different kinds of gametes (like X and Y) |
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Term
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Definition
| producing one type of gamete |
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Term
| Testicular feminzation or androgen insensitivity |
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Definition
testosterone is produced, but the cellular receptors aren't there.
indifferent genitalia develop as female structures, well developed breasts, internal testes, no menstruation, no internal female reproductive tract |
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Term
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Definition
| have both ovaries and testes and both duct systems |
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Term
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Definition
| an individual composed of two or more cell lines of different genetic/ chromosomal constitution |
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Term
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Definition
| have only one type of gonad and ambiguous genitalia |
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Term
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Definition
| induces the formation of a testis |
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Definition
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Definition
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Definition
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Term
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Definition
| traits which are due to genes which are normally expressed only in one sex |
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Term
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Definition
| traits which are due to genes whose expression depends on hormonal background (dominant in one sex and recessive in the other) |
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Term
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Definition
| abnormal changes in chromosomal consititution |
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Term
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Definition
| have full sets of chromosomes |
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Term
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Definition
| does not have full sets of chromosomes |
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Term
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Definition
triploid 3n
tetraploid 4n
(duplication of the set as a whole)
double fertilization |
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Term
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Definition
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Term
| Can triploids divide by meiosis? |
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Definition
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Term
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Definition
Always XXXX or XXYY
Lethal
probably caused by failure of cytokinesis after first mitosis |
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Term
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Definition
2n +/- y
primary cause is nondisjunction in meiosis |
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Definition
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Term
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Definition
| XO, the only viable human monosomy |
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Term
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Definition
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Term
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Definition
don't survive to adulthood
trisomy 8
trisomy 13
trisomy 18
(all of the above don't survive to adulthood)
trisomy 21 |
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Term
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Definition
Down syndrome, the only human autosomal trisomy that survives to adulthood
primary cause is nondisjunction
mosaics frequent
increased chance in older mothers |
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Term
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Definition
| mental retardation, 40% have congenital heartdefects, epicanthal eylid fold, growth retardation, prone to respiratory infections, 15X the normal rate of acute lymphyocytic leukemia, the risk of down syndrome children increases greatly after the maternal age of 34 |
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Term
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Definition
| can be done earlier than amniocentesis, takes a tissue sample |
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Term
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Definition
| related to Alzheimer's disease |
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Term
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Definition
| brain cells develop tangles of fibers, progressive mental impairment, beta-amyloid builds up in brain cells. (down syndrome and those with a family history have greater risk) |
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Term
| Trisomies of the sex chromosome |
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Definition
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Term
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Definition
| usually normal, slight increase in sterility and mental retardation |
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Term
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Definition
| XXY, poor sexual development, very low fertility, some breast development, about 60% result from maternal nondisjunction, many are mosaics with XY and XXY cell lines |
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Term
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Definition
| above average height, somewhat subnormal intelligence, signicicantly higher proportion found in penal and mental institutions. |
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Term
| Sex chromosome trisomies occur? |
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Definition
| by nondisjunction or aneuploid gametes |
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Term
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Definition
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Term
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Definition
| weak infants with a poor sucking reflex, by age 5 or 6 compulsive eaters who become very obese and may eat themselves to death |
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Term
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Definition
| severe retardation, "cat cry" |
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Term
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Definition
| appear as happy puppets, mentally retarded, fascination with water |
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Term
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Definition
| generally found in males who are mentally retarded, have long narrow faces and enlarged testes, X chromosome has a tendency to break |
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Term
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Definition
| DiGeorge Syndrome and VCFS (wide variety of problems) |
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Term
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Definition
deletion on chromosome 7, small upturned nose, long philtrum, wide mouth, full lips, small chin, puffiness around eyes
heart and blood vessel problems, typically a narrowing in the aorta
hypercalcemia
musicality
no two are the same, most can lead normal lives |
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Term
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Definition
| 13q- cancer of the retina, primarilly in children 35% of cases inherited as autosomal dominant with 90% penetrance |
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Term
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Definition
| 11p- cancer of kidney in children |
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Term
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Definition
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Term
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Definition
| two hits in specific site required before cancer develops |
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Term
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Definition
| agents which cause mutations, changes in genes and or chromosomes |
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Term
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Definition
| agents which cause cancer |
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Term
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Definition
usually start with an unequal crossing over, Hemoglobin is an example
duplications beget duplications |
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Term
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Definition
| the oxygen carrying pigment in blood |
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Term
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Definition
| could be caused by chromosome repair mechanisims doing the wrong job |
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Term
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Definition
| the phenomenon of a gene's expression being influenced by it's location |
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Term
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Definition
| when parts of a chromosome break off and attach themselves to nonhomologous chromosomes |
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Term
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Definition
| caused by a 14-21 translocation |
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Term
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Definition
| The phenomenon whereby the degree of a gene's expression depends upon the parent who transmitted it. |
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Term
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Definition
When both copies of a chromosome are inherited from a single parent.
Prader-Wili syndrome and Angelman syndrome are examples of this |
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Term
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Definition
| Pentose sugar with high energy phosphate bonds and a nitrogenous base |
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Term
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Definition
| pentose sugar attached to a nitrogenous base |
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Term
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Definition
Adenine, Thymine, Cytosine, Guanine
A with T
C with G |
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Term
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Definition
| The bonds between the pentose sugar and the phosphate in nucleotides. |
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Term
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Definition
| To break down proteins using heat (usually). |
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Term
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Definition
| a linear sequence of twenty or more joined nucleotides |
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Term
| Watson Crick DNA double helix |
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Definition
| two polynucleotide chains joined by hydrogen bonds between the complimentary nitrogenous bases |
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Term
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Definition
| a complex of DNA, RNA, and proteins which make up a chromosome |
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Term
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Definition
| DNA binding proteins which are essential for chormosome structure. |
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Term
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Definition
| the basic unit of chromosomal structure |
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Term
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Definition
| the enzyme of DNA replication |
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Term
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Definition
| works in the opposite direction as DNA polymerase, but has the same function |
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Term
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Definition
| a deletion on the short arm of chromosome 5 |
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Term
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Definition
| a duplication on the long arm of chromosome two |
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Term
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Definition
| testosterone production, "makes a man out of you" present on the Y chromosome only |
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