Difference between revisions of "Vocabulary"
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'''5mCpG''' | '''5mCpG''' | ||
| − | '''Androgenic hydatidiform mole''' | + | '''Androgenic hydatidiform mole''': An abnormal pregnancy with grossly swollen chorionic villi, but without an embryo, cord, or amniotic membranes. It is diploid with paternal chromosomes because of a failure of the female pronucleus during fertilization. The two sets of paternal chromosomes come from a diploid sperm or haploid sperm which has duplicated. |
'''Bisulfite conversion''' | '''Bisulfite conversion''' | ||
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'''Capillary electrophoresis''': a technique that separates DNA fragments amplified by PCR according to their electrophoretic mobility | '''Capillary electrophoresis''': a technique that separates DNA fragments amplified by PCR according to their electrophoretic mobility | ||
| − | '''CpG Islands/Sites''' | + | '''CpG Islands/Sites''': [[CpG sites]] are regions of the DNA where a cytosine is followed by a guanine in the linear sequence of bases (5' --> 3'). [[CpG Islands]] are short interspersed DNA sequences that deviate significantly from the average genomic pattern by being GC-rich, CpG-rich, and predominantly nonmethylated. Most, CGIs are sites of transcription initiation, including thousands that are remote from currently annotated promoters. |
| + | |||
'''DMR''':differentially methylated region; stretches of DNA in an organism’s genome that have different DNA methylation patterns compared to other samples | '''DMR''':differentially methylated region; stretches of DNA in an organism’s genome that have different DNA methylation patterns compared to other samples | ||
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'''ICR''' | '''ICR''' | ||
| − | '''MSRE-PCR''' | + | '''MSRE-PCR''': methylation sensitive restriction enzyme polymerase chain reaction. It can determine methylation status at a given CpG island |
'''MT21''': nuclear family trio with Down syndrome of maternal origin | '''MT21''': nuclear family trio with Down syndrome of maternal origin | ||
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'''N21''':"normal" nuclear family trio without Down syndrome | '''N21''':"normal" nuclear family trio without Down syndrome | ||
| − | NCBI GEO | + | '''NCBI GEO''': |
| − | Nondisjunction | + | |
| + | '''Nondisjunction''': is the failure of homologous chromosomes or sister chromatids to separate properly during cell division. | ||
| + | There are three forms of nondisjunction: | ||
| + | -failure of a pair of homologous chromosomes to separate in meiosis I, | ||
| + | -failure of sister chromatids to separate during meiosis II, and | ||
| + | -failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). | ||
| + | this is the non-lethal form of nondisjunction that can result in Down's syndrome | ||
'''Oogenesis''': The development of a mature egg cell (ovum) from the primary oocyte. | '''Oogenesis''': The development of a mature egg cell (ovum) from the primary oocyte. | ||
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'''SNP''': single nucleotide polymorphisms; difference in a single nucleotide at a specific position; the most common type of genetic variation among people | '''SNP''': single nucleotide polymorphisms; difference in a single nucleotide at a specific position; the most common type of genetic variation among people | ||
| − | SNuPE | + | '''SNuPE''' |
| − | SRA | + | |
| + | '''SRA''' | ||
'''STR''': Short tandem repeats. A region of the DNA two-thirteen bases long that is repeated up to hundreds of times. These regions can be used to trace lineage | '''STR''': Short tandem repeats. A region of the DNA two-thirteen bases long that is repeated up to hundreds of times. These regions can be used to trace lineage | ||
| − | TSS | + | '''TSS''' |
'''WRB''': Tryptophan Rich Basic Protein coding gene. This gene codes for a nuclear protein of unknown function. Known as a critical region for Down Syndrome because it is linked to congenital heart disease and heart disease. | '''WRB''': Tryptophan Rich Basic Protein coding gene. This gene codes for a nuclear protein of unknown function. Known as a critical region for Down Syndrome because it is linked to congenital heart disease and heart disease. | ||
Revision as of 15:03, 24 January 2017
5mCpG
Androgenic hydatidiform mole: An abnormal pregnancy with grossly swollen chorionic villi, but without an embryo, cord, or amniotic membranes. It is diploid with paternal chromosomes because of a failure of the female pronucleus during fertilization. The two sets of paternal chromosomes come from a diploid sperm or haploid sperm which has duplicated.
Bisulfite conversion
Capillary electrophoresis: a technique that separates DNA fragments amplified by PCR according to their electrophoretic mobility
CpG Islands/Sites: CpG sites are regions of the DNA where a cytosine is followed by a guanine in the linear sequence of bases (5' --> 3'). CpG Islands are short interspersed DNA sequences that deviate significantly from the average genomic pattern by being GC-rich, CpG-rich, and predominantly nonmethylated. Most, CGIs are sites of transcription initiation, including thousands that are remote from currently annotated promoters.
DMR:differentially methylated region; stretches of DNA in an organism’s genome that have different DNA methylation patterns compared to other samples
gDMR
hESC
HhaI: a methylation sensitive restriction enzyme that won’t cleave DNA in methylated region.
ICR
MSRE-PCR: methylation sensitive restriction enzyme polymerase chain reaction. It can determine methylation status at a given CpG island
MT21: nuclear family trio with Down syndrome of maternal origin
N21:"normal" nuclear family trio without Down syndrome
NCBI GEO:
Nondisjunction: is the failure of homologous chromosomes or sister chromatids to separate properly during cell division. There are three forms of nondisjunction: -failure of a pair of homologous chromosomes to separate in meiosis I, -failure of sister chromatids to separate during meiosis II, and -failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). this is the non-lethal form of nondisjunction that can result in Down's syndrome
Oogenesis: The development of a mature egg cell (ovum) from the primary oocyte.
Proband: A person that is used as the starting point for a family in a genetic study. A term used especially in medicine or psychiatry.
PT21: nuclear family trio with Down syndrome of paternal origin
rs#: “Reference SNP” - way to reference specific SNPs (Single Nucleotide Polymorphisms)
SNP: single nucleotide polymorphisms; difference in a single nucleotide at a specific position; the most common type of genetic variation among people
SNuPE
SRA
STR: Short tandem repeats. A region of the DNA two-thirteen bases long that is repeated up to hundreds of times. These regions can be used to trace lineage
TSS
WRB: Tryptophan Rich Basic Protein coding gene. This gene codes for a nuclear protein of unknown function. Known as a critical region for Down Syndrome because it is linked to congenital heart disease and heart disease.
