Term
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Definition
| Happens during replication prior to meiosis. Affects every single cell. |
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Term
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Definition
| Happens during replication after mitosis. |
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Term
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Definition
| Precollagen chains do not get trimmed resulting in stretchy skin. |
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Term
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Definition
| Caused by Amyloid build up in blood stream and in the brain. This is due to 30+ missense mutations in the Presenilin 1 in the golgi membrane which monitors storage of amyloid. |
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Term
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Definition
Dwarfism, normal auto dom. parents.
Example of spontaneous mutation due to a tautomeric shift in the oocyte or sperm. |
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Term
| What causes Sickle Cell Disease? |
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Definition
| A missense mutation causing a 1 aa substitution. |
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Term
| What causes clotting factor XI deficiency? |
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Definition
| A nonsense mutation causing GGA (glu) to change into UAA (stop) creating a non functional protein. |
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Term
| What causes Becker Muscular Dystrophy? |
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Definition
| A point mutation in a promoter region leading to shortened dystrophin protein due to a nonsense mutation. |
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Term
| What causes Severe Cystic Fibrosis |
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Definition
| A point mutation in an intron causing it to not be removed and a larger Cl- transport protein unable to fit into the membrane leading to a buildup of Cl-. |
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Term
| What causes Breast Cancer by BRCA1 Gene? |
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Definition
| A point mutation in an exon causing the exon to be removed yielding a shortened protein with a loss of function. |
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Term
| What causes Familial Dysautonomia? |
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Definition
| Exon skipping causing a loss of neurons for sensation and involuntary responses in brain. |
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Term
| What does a deletion of the CCR5 HIV Receptor gene cause? |
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Definition
| Immunity to AIDS as there is no longer a specific receptor on the WBC surface. |
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Term
| What causes Duchenne Muscular Dystrophy? |
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Definition
| A deletion of a large portion of the dystrophin gene. 2/3 of cases |
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Term
| What causes Gaucher Disease? (2 ways) |
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Definition
1) 1 nt insertion in glucocerebrosidase gene. Causes accumulation of glycolipids in liver and spleen and neurological impairment.
2) Insertion due to a misalign of gene and pseudogene during meiosis. A non functional fusion gene results. |
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Term
| What causes Charcot-Marie-Tooth Disease? |
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Definition
| A 1.5 million base pair tandem duplication causing numb hands and feet. |
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Term
| Expanding Triple Repeat disorders |
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Definition
Myotonic Dystrophy 1 and 2
Fragile X Syndrome |
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Term
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Definition
| Links chromosome variations with specific traits. |
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Term
| Robertsonian Translocation |
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Definition
| Long arms of 2 acrocentric chromosomes fuse together - short arms lost |
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Term
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Definition
| 2 chromosomes exchange parts |
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Term
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Definition
| Genetic exchange between chromosomes 2 and 20. Charactersistic face, heart defect, no bile ducts, itchy. |
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Term
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Definition
47 chromosomes: 1 chrom. 22 and ring
Vertical pupils, mentally retarded, heart and urinary tract anomalies. |
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Term
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Definition
CCC repeats in homogentisic oxidase gene-replication slippage
Occurs in 1/3 of cases |
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Term
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Definition
| Clotting Factor IX has CG repeats. Palindromes have in/dels near them - disturbing replication |
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Term
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Definition
Chrom 16 with 2 copies of alpha subunit
Misalign during mieosis - missing or extra
3 genes: healthy, 2 genes: anemic tired, 1 gene: severely anemic |
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Term
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Definition
| In vitro test of mutagenicity of a substance to bacteria or tissue |
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Term
| Site directed Mutagenesis |
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Definition
| Specific point mutations induced to study in cell culture or model animals. |
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Term
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Definition
| Breaks S-P backbone in DNA |
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Term
| What causes Male Infertility? |
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Definition
| Deletions in the Y chromosome |
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Term
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Definition
Muscle weakness that gets progressively worse from gen to gen
5' untransl region of a gene on Chrom 19 has CTG repeat that expands
normal 5-37 copies
disorder 50,000 copies - mRNA to big to leave nucleus |
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Term
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Definition
CCTG on chrom 3 repeated >100 times (normally <10)
Intron is expanded and not removed (too big)
long mRNA binds to a protein that alters intron splicing in several other genes
Multiple symptoms result |
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Term
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Definition
CCG in FMR1 gene normally repeated 6-50X
CCG repeated 50-200X in a transmitting male and mile symptom female
CCG repeated 200-2000X FMR1 protein binds to MRNAs whose encoded proteins are cructial for brain neuron function
Results in mental retardation and distinct facial features.
1/2000 males
1/4000 females - milder due to X inactivation |
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Term
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Definition
14-16 weeks of gestation
Cells cultured 7-10 days
20 cells karyotyped
Detects 800 chromosomal abnormalities (DNA probes)
Detects biochemical problems from embryonic fluid |
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Term
| Chorionic Villi Sampling (CVS) |
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Definition
10-12 weeks gestation
Chorionic villi derived from fertil. ovum
No cell culture, quick
Chrom abberations cause false neg and false pos.
Metabolic disorders cannot be detected
Greater risk of miscarriage than amniocentesis |
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Term
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Definition
2/3 of cases are triploid from ovum and 2 sperm
1/3 of cases are triploid from diploid egg and haploid sperm
Account for 17% of spont. abortions and 3% of stillborn/newborn deaths |
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Term
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Definition
Extra or missing chromosomes due to nondisjunction
Seen in 5% of pregnancies
Most cases from ovum during meiosis 1 with only some during meiosis 2.
Most spont. abort
Trisomy more common than monosomy
Trisomy of small cells (13/18/21) can survive to birth.
Mitotic nondisjunction causes mosaic individual |
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Term
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Definition
Downs syndrome
Short, flat face, short fingers, thick lips, protruding tongue, heart and kidney problems, digestive blockage, mental retardation
Difficulty with math and reading, takes things literally. Higher risk from mothers over 35 but 80% of cases are from mothers under 35 due to higher birth rates. |
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Term
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Definition
Edwards syndrome
1 in 6,000- 10,000 very rare
Most do not survive
Serious disabilities
Developmental skills stop at 6 months
Most due to nondisjunction at meiosis II |
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Term
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Definition
Patau Syndrome
Very rare
Most do not survive to 6 months
Eye fusion and facial malformation |
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Term
| BRCA 1 and BRCA 2 Increased Cancer Risk |
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Definition
Breast cancer is 5 times as likely with the BRCA 1 or 2 mutation.
Ovarian cancer is also more than 10 times as likely with the mutation.
Also increase the risk of several other cancers. |
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Term
| Other cancers related to BRCA 1 and 2 mutation |
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Definition
Ovarian cancer
BRCA 1 - cervical, uterine, pancreatic, and colon cancer, in men testicular, and prostate cancer
BRCA 2 - pancreatic, stomach, gall bladder and bile duct cancers. In men prostate cancer. |
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Term
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Definition
Deletion in short arm of chrom 5.
High pitched cry, mental retardation, developmentally delayed, missing telomerase reverse transcriptase gene.
Shortened lifespan. |
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Term
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Definition
Telomeres lost, sticky ends adhere
1 in 25,000 conceptions |
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Term
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Definition
Inheriting both homologues from only 1 parent
Nondisjunction in both gametes
Imprinting probelms arise |
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