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| Mendelian inheritance is difficult to study in humans because: |
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Definition
1. human generation time is about 20 years 2. well-planned breeding experiments are unethical 3. humans produce relatively few offspring |
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| reveals mendelian patterns in human inheritance based on what has already occured |
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| a family tree that diagrams the relationship among parents and offspring across generations and that shows inheritance patterns of a particular phenotypic character. |
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| a heterozygous parent with a normal phenotype but that has the possibility of transmitting the defective allele to the progeny. |
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Term
| autosomal dominance and recessiveness |
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Definition
-recessive disorder must be homozygous -dominant can be homor or heterozygous. |
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Term
| autosomal recessive disorders |
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Definition
1. heterozygotes have normal phenotypes 2. 2 affected parents always have affected children 3. if affected individual mates with a normal homozygous person, all children will be carriers. |
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Term
| autosomal dominant disorders |
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Definition
1. affected children have at least one affected parent. 2. heterozygous are affected. 3. 2 affected parents can have unaffected children. 4. 2 unaffected parents will not have affected children |
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Term
| autosomal chromosome abnormalities |
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Definition
| changes in the number of individual chromosomes or changes in chromosome structure |
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Term
| chromosomal abberation due to aberrant number |
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Definition
-euploidy -aneploidy -polyploidy |
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Definition
| an organism or a cell having a chromosome number that is an exact multiple of the monoploid or haploid number. |
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Definition
| an organism or cell having a chromosome number that is not an exact multiple of the monoploid/haploid with one genome |
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| an organism with more than 2 sets of chromosomes or more than 2 sets of genomes |
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Term
autosomal recessive disorders (examples) |
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Definition
1. cystic fibrosis 2. tay sachs disorder 3. sickled cell 4. phenylketoneurea 5. thallassemia 6. xeroderma pigmentosum 7. albinism |
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Term
autosomal dominant disorders (examples) |
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Definition
1. neurofibromatosis 2. marfan syndrome 3. achondroplasia 4. huntington disease |
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Definition
| sex-determining region of y |
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-pass x linked alleles to all daughters only. -males receive x chromosome from mother -can't pass x linked traits to sons. |
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-can pass x linked alleles to sons and daughters - pass one x to every child |
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Definition
| condition where only one copy of a gene is present in a diploid organism |
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Definition
-most common in whites in US - 1/1000 infants born with it -chloride ion channel protein is defective -gene is located on chromosome 7 |
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Definition
-associated with jews -affected baby slows in development in 4-8 months, brain doesnt properly coordinate movement -no treatment or cure -caused by lack of hexosminidase A |
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Definition
| -caused by lack of enzyme that breaks down phenylalanine |
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-found in mediterranean people -characterized by a failure to produce a functional mRNA for hemoglobin. -leads to difficult breathing |
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-characterized by extreme sensitivity to sunlight -mild exposure can cause skin cancer |
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-lethal mutation in plants -no pigment in skin, eyes, or hair -affects vision |
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| characterized by tan spots that enlarge and become darker and increase in number. |
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Definition
affected tend to be very tall with long fingers -chromosome 15 |
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Definition
| type of dwarfism associated with skeletal disorder-- enlarged skull, short arms and legs. |
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Definition
| homozygous is rare, adults are heterozygous. |
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sex linked traits (examples) |
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Definition
-color blindness -muscular dystrophy -hemophilia |
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Definition
| in females, each of the embryonic cells inactivate one of the 2 X chromosomes. The inactive X chromosomes contract into a dense object known as the barr body. |
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Definition
X inactive specific transcript-- active only on barr body. |
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| give 2 alterations in chromosome number.- |
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Definition
-chromosomal nondisjunction -sister chromatids don't separate |
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Definition
only known viable monosomy-- Xo. -produces a short female with broad chest and possible heart defect. ovaries are never functional, puberty never reached. |
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Definition
| metafemale-- normal phenotype, sometimes irregular periods or early menopause. |
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XXY or XXYY -underdeveloped testes, breast development, normal fertility, feminine contours. |
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XYY tall, persistent acne, normal intelligence and fertility. |
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Definition
| influence on a gene's expressioni because of its location among neighboring genes. |
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Term
| Prader Willi-Angelman Syndrome |
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Definition
| a defect inherited differently from males and females. |
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Definition
caused by a deletion on chromosome 15 from paternal version. -mental retardation, obesity, short stature, unusually small hands and feet. |
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cause by a deletion on maternal chromosome 15. -uncontrollable spontaneous laughter, jerky movement, motor and mental symptoms |
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Definition
| certain genes express differently in the offspring depending on whether the allele was inherited from the ovum or sperm. |
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Definition
-amniocentesis -chronic villus sampling -ultrasound -fetascopy |
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Definition
extraction of 10 mL of amniotic fluid and cultured. takes several weeks for results. |
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Definition
new technique associated with the suction of the chorionic villus of the placenta and cultured karyotype overnight. |
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Definition
| access physical abnormalities by using sound waves to view the image. cannot show abnormalities at chromosomal level. |
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| inserts a thin fiber optic scope into the uterus |
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| name the types of alteration of chromosome structure. |
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Definition
-deletion -duplication -inversion -translocation |
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Definition
a missing chromosomal segment, 2 types: -interstitial -terminal |
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the alteration in the sequence of genes which may be of 2 different kinds relative to the position of the centromere. -paracentric -pericentric |
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Definition
| if the inverted section does not involve the centromere. |
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| if the inversion contains the centromere |
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the movement by breakage and reuniting among chiasmata of non-homologous chromosomes, 3 types. -interstitial -reciprocal -robertsonian |
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| interstitial translocation |
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Definition
| involves the one-way movement of a segment |
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Definition
| involves a 2-way exchange of chromosomal segments |
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Term
| robertsonian translocation |
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Definition
| p arms lost, fusion between q arms of non-homologous chromosomes at the centromere. |
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