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68 Cards in this Set
- Front
- Back
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Allele
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One member of a pair of genes occupaying a specific spot on a chomosome that controls the same trait / Each oppsing gene is called an Allele of the other
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Aneuploid
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abnormal cells- could be extra or missing individual cells
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Euploid
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a cell that has the correct number of chromosomes
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Trisomy
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(abnormal) resuts when there is 3 of any chromosome
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Monosomy
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resluts when there is only 1 chromosome instead of 2 ** Monosoy of any of the somatic cells will not support life
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Nondisjunction
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failure of paired chromosomes to separate and migrate to opposite poles during anaphase --which causes the abnormalities in the number of chromosomes
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Anodontia
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missing all teeth
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Hypodontia
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missing some teeth
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Autosomal
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Autosomal chromosomes that regulate almost everything that the body is and does (SOMATIC CELLS) (part of a somatic cell which contains 22 pairs of autosomal and 1 pair of sex chromosomes)
--> any chromosome not considered as a sex chromosome or is not involved in sex determination. It occurs in pairs in somatic cells. |
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Chromatin
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genetic material that is mainly comprised of deoxyribonucleic acid DNA which condenses to form a chromosome (genetic material found in the nuclei of most human cells)
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Chromosome
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A threadlike linear strand of DNA and associated proteins in the nucleus of eukaryotic cells that carries and functions in the transmission of hereditary information (formed by the Chromatin prior to cellular division)
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Centromere
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constricted area within a chromosome / The most condensed and constricted region of a chromosome, to which the spindle fiber is attached during mitosis
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Chromatid
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Either of the 2 daughter strands of a replicated chromosome that are joined by a single centromere and separated during cell division to become individual chromosomes (each vertical half of that individual chromosome is called a chromatid)
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Telomere
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the end of each arm of the chromosome (end cap) important role in in the reproductive capacity of most cells
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Somatic Cells
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human body is composed of somatic cells, each somatic cell has 46 chromosomes or 23 pairs of chromosomes (1 maternal and 1 paternal set)
**ALL body cells of an organism--except for sex/reproductive cells |
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Diploid Cells
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46 pairs of chromosomes make up the diploid cells
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Gametes Cells
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are the reproductive or sex cells (ovum and sperm) contains 23 chromosomes (will get the other 23 from parent)
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Haploid Cells
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The single set of 23 chromosomes (relate it to gamete cells)
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Barr Body
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The small dark staining of inactive X chromosome within the nucleus of non dividing cell (in females) (males do not have barr bodies)
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Trait
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Characteristic or attribute
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Genotype
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The genetic constitution of an individual organism (like having all 46 chromosomes)
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Phenotype
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How the specific individual's body functions and how a person looks like physically
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homozygous
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having identical alleles at corresponding chromosomal locus (containing 2 copies of the same allele for a particular trait)
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Heterozygous
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Having dissimilar alleles at corresponding chromosomal locus
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Dominant
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Genes that will express a trait whether the individual is heterozygous or homozygous for that trait
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Recessive
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genes that must be present in both alleles for a recessive trait to be expressed / an allele that does not produce a characteristic effect when present with a dominant allele.
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Carrier
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A heterozygous individual bearing an unexpressed defective gene, recessive trait, disorder or disease (able to transmit the gene to a next generation
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Intermediate expression
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occurs when an individual who is heterozygous for a particular trait exhibits neither of the homozygous phenotypes but exhibits a trait somewhere between the two.
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Codominance
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A condition in which the alleles of a gene pair in a heterozygote are fully expressed thereby resulting in offspring with a phenotype that is neither dominant nor recessive (EX: Condominance like in the AB blood type, person having A allele and B allele will have blood type AB because both the A and B alleles are condominant with each other)
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Expressivity
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the variations with which individuals even within the same family may exhibit the phenotype of an identical genetic trait
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Bossing
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enlarged rounding of the frontal and parietal bones, caused by delayed closure of the sutures and frontanels
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Pseudoanodontia
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an absence of teeth caused by failure of teeth to erupt (happens in patients with Cleidocranial dysplasia CCD)
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Congenital
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abnormality can be hereditary or developmental AS LONG AS IT'S PRESENT AT OR AROUND BIRTH TIME
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Developmental disorders
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occurs when there's a disturbance in the development of the body that results in an abnormality (can be very severe and cause miscarriage or abortion or minor and cause few to no problems)
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Hereditary
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this conditions are caused by a genetic abnormality that can be passed from generation to generation.
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Morphogenesis
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the differentiation of embryonic cells that determines form and function of organs and parts of the body
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Embryo
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the first 8 weeks from conception, after implantation but before all organs are developed.
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Fetus
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an unborn human baby more than 8 weeks after conception
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Deletion
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when a portion of a chromosome is lost and can occur anytime there is a break in a chromosome (talking abnormalities in chromosome structure)
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Translocation
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occurs when parts of 2 chromosomes are exchanged (no loss of genetic material-individual will function normally)
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Inversion
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occurs when there are 2 breaks in a chromosome and the resulting piece is inverted or turned around and reinserted in the same place (again no loss of genetic material and individual will function normally)
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Mosaicism
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is created when a cell in the very early development of the embryo loses or gains genetic material-A condition in which an individual or an organism that develops from a single zygote has 2 or more cell populations that differ in genetic constitution (most often seen in humans with down syndrome)
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Simian Crease
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a single transverse crease across the palm
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Hypertelorism
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Increased distance between eyes or 2 organs (far apart/wide space in between)
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Hypotelorism
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eyes set close together and slant upward (decreased distance between the eyes)
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Epicanthal fold
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a fold of skin beginning at the root of the nose and extending to the beginning of the eyebrow / A fold of skin of the upper eyelid that partially covers the inner corner of the eye
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Prognathism or Protrusion
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a condition of having jaws that project beyond the upper part of the face (jaws project forward to a marked degree)
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Macroglossia
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enlarged tongue
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Echocardiogram
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A test of the action of the heart using ultrasound waves to produce a visual display
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Gene
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a functional unit of genetic material in chromosomes that is arranged into areas that function as a unit to create a specific protein or enzyme /A hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an organism Genes undergo mutation when their DNA sequence changes.
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Genome
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the genetic composition of a haploid set of human chromosomes (complete set of generic material of an organism)
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Gorlin's sign
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the ability to touch the tip of the nose with the tongue
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Hyperhidrosis
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excessive sweating (can be associated with malodor)
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Homologous
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showing a degree of similarity (ex--position, structure, function or characteristics) that may indicate a common origin
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Oligogenic inheritance
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the result of the interaction of more than 1 gene found at different loci. The result of the interaction of multiple genes causes the phenotypic expression of a trait or modifies it's expression by making it more or less severe.
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Karyotype
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is a picture of a collection of the 46 chromosomes from one of an individual's cells. Purpose is to show whether an individual has too many or too few chromosomes.
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Locus
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location of a gene on a chromosome
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Multifactorial inheritance
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Inheritance involving many factors -number of genes and environmental factors
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Periosteum
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the dense fibrous membrane covering the surface of bones (serves as an attachment for muscles and tendons)
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Photophobia
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light sensitivity
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Xerophthalmia
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dry eyes (due to defective lacrimal glands)
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Polymorphism
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The occurrence of more than one kind or form of organisms of the same species that exist together in one locality / Polymorphism occurs when different phenotypes exist in the same population of a species (variation)
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Zygote
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A diploid cell following fertilization or union of a haploid male sex cell and haploid female sex cell
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Teratology
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the study of developmental abnormalities that take place during fetal development
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Teratogens
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agents that cause developmental abnormalities, can be chemical, biologic, or physical in nature (ex--alcohol/tobacco/cocaine/heroin/tetracycline/maternal diabetes/warfarin/anticancer drugs)
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Penetrance
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The number of people that have the genotype for a specific trait and who exhibit the expected characteristics or phenotype (the frequency or occurrence)
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Complete Penetrance
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describes a genotype that is always portrayed in the phenotype
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Incomplete Penetrance
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refers to the number of individuals that who have the same genotype as above but do not exhibit the characteristics or the phenotype expected of those who have this genotype.
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