Difference between revisions of "Vocabulary"
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| − | '''5mCpG''' | + | '''5mCpG''': A methylated CpG site (CpG is short for 5’—C—phosphate—G—3’) |
'''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. | '''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. | ||
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'''gDMR''' | '''gDMR''' | ||
| − | '''hESC''' | + | '''hESC''': (human embryonic stem cells) generated by growing cells from a preimplantation-stage embryo in a culture medium; pluripotent |
'''HhaI''': a methylation sensitive restriction enzyme that won’t cleave DNA in methylated region. | '''HhaI''': a methylation sensitive restriction enzyme that won’t cleave DNA in methylated region. | ||
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'''N21''':"normal" nuclear family trio without Down syndrome | '''N21''':"normal" nuclear family trio without Down syndrome | ||
| − | '''NCBI GEO''': | + | '''NCBI GEO''': a genomics data repository supporting array- and sequence-based data. da Silva et al. queried GEO to obtain RNAseq data for SNPs neighboring the WRB locus. |
'''Nondisjunction''': is the failure of homologous chromosomes or sister chromatids to separate properly during cell division. | '''Nondisjunction''': is the failure of homologous chromosomes or sister chromatids to separate properly during cell division. | ||
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'''PT21''': nuclear family trio with Down syndrome of paternal origin | '''PT21''': nuclear family trio with Down syndrome of paternal origin | ||
| − | '''rs#''': | + | '''rs#''': (Reference SNP) - way to reference specific SNPs (Single Nucleotide Polymorphisms) |
| − | '''SNP''': 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''' | + | '''SNuPE''': (single-nucleotide primer extension) A molecular biology technique in which an oligo flanking a CpG site is extended and terminated by a ddCTP (dideoxycytosine nucleotide) if the site is methylated, or a ddTTP (dideoxythymine nucleotide) if the site is unmethylated. |
'''SRA''': (sequence read archive) large database online which stores high-throughput sequencing data for researchers to compare and contrast | '''SRA''': (sequence read archive) large database online which stores high-throughput sequencing data for researchers to compare and contrast | ||
Revision as of 15:07, 24 January 2017
5mCpG: A methylated CpG site (CpG is short for 5’—C—phosphate—G—3’)
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: (human embryonic stem cells) generated by growing cells from a preimplantation-stage embryo in a culture medium; pluripotent
HhaI: a methylation sensitive restriction enzyme that won’t cleave DNA in methylated region.
ICR: (imprinting control region) imprinting is an epigenetic process which the methylation of a parental gene is inherited and replicated by the offspring. ICRs are non-coding RNAs and DMRs that control the imprinting of one or more genes
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: a genomics data repository supporting array- and sequence-based data. da Silva et al. queried GEO to obtain RNAseq data for SNPs neighboring the WRB locus.
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: (single-nucleotide primer extension) A molecular biology technique in which an oligo flanking a CpG site is extended and terminated by a ddCTP (dideoxycytosine nucleotide) if the site is methylated, or a ddTTP (dideoxythymine nucleotide) if the site is unmethylated.
SRA: (sequence read archive) large database online which stores high-throughput sequencing data for researchers to compare and contrast
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: (Transcription Start Site) location where transcription starts in the genome. These occur on the 5' end a number of base pairs away from the promoter
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.
