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Genetics
Genetics
83
Health Care
Graduate
08/16/2009

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Term
members of a pair of chromosomes carrying matching genetic information at a specific locus
Definition
Homologous Chromosomes
Term
slightly different form of the same gene at a locus
Definition
Allele
Term
How are chromosomes arranged?
Definition
23 pairs
(22 pairs are autosomes, 1 pair is a sex chromosome)
Term
What is DNA comprised of?
Definition
deoxyribose (a nitrogen and a phosphate group)
Term
What are the 2 nitrogen bases of DNA that are purines?
Definition
adenine and guanine
Term
What are the two nitrogen bases of DNA that are pyrimidine?
Definition
thymine and cystosine
Term
Ordinary somatic cell division for growth, differentiation, and tissue regeneration
Definition
Mitosis
Term
Cell division that occurs only in the formation of reproductive cells (gametes)
Definition
Meiosis
Term
Results in 2 daughter cells (diploids) with identical chromosomes and genes to the parent cell
Definition
Mitosis
Term
Each gamete (haploid) only has 23 chromosomes – one of each type of autosome and an X or a Y.
Definition
Meiosis
Term
Actual genetic make-up
Definition
Genotype
Term
Actual physical make-up
Definition
Phenotype
Term
Complete picture of the chromosomes
Definition
Karyotype
Term
Which law states that allele pairs separate or segregate during gamete formation, and randomly unite at fertilization.
Definition
Mendel's Law of Segregation and Independent Assortment
Term
Prohibits denying coverage, limiting eligibility, or charging more based on genetic info
Limits exclusions for pre-existing condition
Genetic information alone, in absence of current disease, not considered a preexisting condition.
Definition
HIPPA
Term
States that it is Illegal for health insurers to deny coverage to a healthy individual with a genetic predisposition to a specific disease
Definition
Genetic Information Non-Discrimination Act of 2007
Term
Making choices on the basis of ethically relevant or irrelevant differences between things, events, or agents.
Definition
Discrimination
Term
The obligation of those who obtain information about individuals, either legitimately or illegitimately, to protect the privacy of that information.
Definition
Confidentiality
Term
The moral obligation to attempt to find/follow-up with a patient or family who was seen previously, if medically appropriate and desired
Definition
Duty to re-contact
Term
The moral obligation, usually under exceptional circumstances, to disclose information to at-risk relatives; this duty may require a health care professional to breach patient confidentiality if a person, other than the patient, is in clear and imminent danger
Definition
Duty to Warn
Term
A process in which an individual or family makes a decision based on relevant information
Definition
Full disclosure
Term
A process in which an individual or family makes a decision based on relevant information
Definition
Informed consent/assent/refusal
Term
The obligation to respect the decision-making capacities of autonomous persons who have been fully informed with accurate and unbiased information
Definition
Patient autonomy
Term
Maintenance or support for family unity and completeness
Definition
Preservation of Family Integrity
Term
The right to control access to information about oneself
Definition
Privacy
Term
Respect for the autonomy of the clinician as it pertains to the individual health care or social services professional’s moral code
Definition
Professional Autonomy
Term
The duty of a clinician to realize the extent of his or her knowledge, skills, attitude or behavior as they pertain to their practice and the laws, rules, regulations, standards of care and guidelines thereof
Definition
Professional Limitations
Term
Utilization/appreciation of using two or more individuals in the provision of genetic health care services
Definition
Team Approach
Term
Each ______ contains a single molecule of DNA
Definition
Chromosome
Term
Formed by DNA wrapped around histones (small positively charged proteins)
Definition
Nucleosomes
Term
4 nitrogen bases of DNA
Definition
adenine (A), thymine (T), cytosine (C), and guanine (G).
Term
Adenine binds with _____
Definition
Thymine
Term
Cytosine binds with _____
Definition
Guanine
Term
Humans have an estimated _____ genes, with an average length of_______ bases
Definition
30,000 genes; 3,000 bases
Term
Sequence of DNA in the genome that is required for production of a functional product
Definition
Gene
Term
Messenger RNA (mRNA) is synthesized from the DNA template. This is known as what?
Definition
Transcription
Term
Occurs within ribosomes (rRNA) in the cytoplasm. Transfer RNA (tRNA) provides the link between the mRNA and the amino acid that correlates to the genetic code.
Definition
Translation
Term
Study of chromosomes structure and their inheritance as applied to the practice of medicine
Definition
Cytogenetics
Term
The most common method for visualizing chromosomes
Definition
G-banding with Giemsa stain.
Term
Centromere that is off center with arms of different lengths
Definition
Submetacentric
Term
Central centromere
Definition
Metacentric
Term
Centromere is near one end
Definition
Acrocentric
Term
Two arms of the chromosome
Definition
p – short arm
q – long arm
Term
Present in nearly 1% of all live births, 2% of pregnancies in women older than 35, and 50% of first trimester spontaneous abortions
Definition
Chromosomal Abnormalities
Term
Abnormal number of chromosomes due to an extra or missing chromosome that is always associated with physical or mental maldevelopment or both;
Most common chromosomal abnormality
Definition
Aneuploidy
Term
Only one of a particular chromosome
Definition
Monosomy
Term
Three of a particular chromosome
Definition
Trisomy
Term
Chromosome abnormality where one arm is missing and the other arm is a mirror image – partial monosomy and partial trisomy
Definition
Isochromosomes
Term
Chromosomal abnormality where two chromosome segments fuse end to end with loss of their acentric fragments
Definition
Dicentric
Term
Exchange of segments between 2 nonhomologous chromosomes
Definition
Translocation
Term
Total number of chromosomes is unchanged
Definition
Reciprocal translocation
Term
Two acrocentric chromosomes fuse near the centromere with the loss of the short arms
Definition
Robersonian translocations
Term
Segment removed from one chromosome and inserted into a different chromosome
Definition
Insertions
Term
Individual has two or more cell populations with a different chromosomal makeup
Definition
Mosaicism
Term
Abnormal #15 from father
Definition
Prader-Willi syndrome
Term
Abnormal #15 from mother
Definition
Angelman syndrome
Term
Abnormal #11 from mother or father (unequally)
Definition
Beckwith-Wiedemann syndrome
Term
Diagram of family genetic relationships that uses standard symbols and nomenclature
Definition
Pedigree
Term
Change in the number, structure and/or origin of one or more chromosomes that leads to an excess, deficiency or change of function of one or more genes
Definition
Chromosomal Abnormalities
Term
The only 3 trisomy disorders compatible with life
Definition
Trisomy 21, trisomy 18 and trisomy 13.
Term
All are associated with growth retardation, mental retardation and multiple congenital anomalies
Definition
Trisomy disroders
Term
Most common chromosome disorder with incidence of 1 in every 800 births
Definition
Trisomy 21 (Down Syndrome)
Term
Hypotonia at birth, short stature, brachycephaly with a flat occiput, short neck, loose skin at the nape, flat nasal bridge, low-set ears with a folded appearance are all dysmorphic features of what disorder
Definition
Trisomy 21 (Down Syndrome)
Term
Average IQ is only about 60 however some are able to become self reliant and hold jobs
Definition
Down Syndrome
Term
1/3 of all Trisomy 21 patients have this disease
Definition
Congenital Heart Disease
Term
Risk of having a down syndrome child
Definition
After the maternal age of 35
Term
The removal and analysis of a small sample of fetal cells from the amniotic fluid done at 14-18th week of pregnancy
Definition
Amniocentesis
Term
Extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy that is tested for the presence of extra material from chromosome 21
Definition
Chorionic Villus Sampling
Term
-Most accurate method used to confirm the results of CVS or amniocentesis.
-The tissue is tested for the presence of extra material from chromosome 21
-Cannot be done until the 18-22nd week - greatest risk of miscarriage
Definition
Percutaneous Umbilical Blood Sampling (PUBS)
Term
Second most common autosomal aberration affecting 1/7500 live births
Definition
Trisomy 18 – Edwards Syndrome
Term
Most die in embryonic or fetal life – 95% are spontaneously aborted as a result of this abnormality
Definition
Trisomy 18 – Edwards Syndrome
Term
Characterized by mental retardation, failure to thrive, severe malformation of the heart.
Hypotonia at birth, prominent occiput, receding jaw, low-set and malformed ears.
Fists clenched with second and fifth digits overlapping, rocker-bottom feet
Definition
Trisomy 18- Edward's Syndrome
Term
Deformities include severe central nervous system malformations, eye and ear deformities, cleft lip and palate, Congenital heart defects, polydactyly, rocker-bottom feet and urogenital defects
Definition
Trisomy 13 – Patau Syndrome
Term
Incidence 1 in 15,000 – often results in SAb
More than 50% of children with this disorder die in the first month of life
Definition
Trisomy 13 – Patau Syndrome
Term
May have more than 2 X chromosomes
Incidence 1 in 1000 male live births
Tall, thin, hypogonadism, gynecomastia, infertility, decreased muscle mass, loss of libido
Verbal, lower intellect, learning problems particularly reading
Definition
Klinefelter’s syndrome (47,XXY)
Term
Incidence 1 in 1000
Hard to distinguish from nl males – normal intelligence and not dysmorphic
Tall, increased risk of educational or behavioral problems. ADHD and impulsivity are clearly documented however not violence or psychopathology as previously thought
Definition
47-XYY Syndrome
Term
Incidence 1 in 1000 female births
Tall, normal puberty and usually fertile.
Some learning disabilities and abnormal behavior especially in adolescence.
Definition
Trisomy X (47,XXX)
Term
The only viable monosomy in humans
XO individuals are genetically female, however, they do not mature sexually during puberty and are sterile.
Short stature and normal intelligence – some learning disabilities
98% of these fetuses die before birth
Definition
Turner Syndrome (45,X)
Term
Autosomal recessive disorder more common in men due to less iron storage in females
Definition
Hemochromatosis
Term
Most common autosomal recessive disorder in caucasions
Progressive pulmonary disease, exocrine pancreatic insufficiency, decreased male fertility, elevated sweat chloride concentration, and failure to thrive
Definition
Cystic Fibrosis
Term
Autosomal recessive disorder with increased frequency in certain populations (Ashkenazi Jews)
Definition
Tay-Sachs disease
Term
Autosomal recessive disorder seen most often in offspring of marriages between first cousins
Definition
Xeroderma pigmentosum
Term
Incomplete penetrance and variable expressivity – more in males
Onset – 40-60 yrs old in males or after menopause in females
Definition
Hemochromatosis
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