Chapter 2 - Biological and Environmental Foundations Flashcards
Characteristics of your phenotype, such as your height, are determined by a combination of your ____________ and your ____________
genotype and your environment
Phenotype vs. Genotype
Phenotype – the directly observable characteristics Genotype - the complex blend of genetic information that influences our unique characteristics
Deoxyribonucleic acid (DNA)
long, double-stranded molecules that make up chromosomes
The ‘rungs’ on the (DNA) ladder are made up of …
The ‘rungs’ on this ladder are made up of four bases Adenine (A) Thymine (T) Guanine (G) Cytosine (C) The pairings are always A-T and C-G
Gene
A segment of a DNA molecule that contains hereditary instructions Genes can be of different lengths, varying from maybe 100 to thousands of base pairs It’s been estimated that we have 20,000 to 25,000 genes • We share between 98% and 99% of these with the chimpanzee • You share about 99.1% of your genes with the person sitting next to you
Mitosis
The process of cell duplication, in which each new cell receives an exact copy of the original chromosomes This is how body cells reproduce
Gametes
human sperm and ova, which contain half as many chromosomes as regular body cells
Meiosis And the steps
the process of cell division through which gametes are formed and in which the number of chromosomes in each cell is halved Steps 1. Chromosomes each duplicate and then pair up with one another 2. Crossing over takes place between the two innermost pair members 3. The pairs of chromosomes separate to form two cells, each with 23 duplicated chromosomes 4. The duplicated chromosomes separate to form gametes each with 23 single chromosomes This results in 4 sperm or 1 ovum
Zygote
When gametes unite at conception
cytoplasm
The area surrounding the cell nucleus, where the genes send instructions for an assortment of proteins
Crossing over during meiosis
When chromosomes next to each other break at one or more points along their length and exchange segments, so that genes from one are replaced by genes from the other. This increases genetic diversity.
Automsomes
the 22 matching chromosome pairs in each human cell they are numbered from longest to shortest
Sex chromosomes
The 23rd pair of chromosomes, which determines the sex of the child In females, we see XX; in males, we see XY The X chromosome is significantly larger than the Y, and carries more genetic material
Fraternal, or dizygotic, twins
Twins resulting from the release and fertilization of two ova. They are genetically no more alike than ordinary siblings
Maternal factors linked to fraternal twinning
Ethnicity Family history of twinning Age (rise with age peaking at 35-39) Nutrition (more often with tall and/or normal to overweight) Number of births (more likely with each additional birth) Fertility drugs and in-vitro fertilization Climate
Identical, or monozygotic, twins
Twins that result when a zygote, during the early stages of cell duplication, divides in two. They have the same genetic makeup
Multiple birth children are often …
born early, and are thus often less healthy and slower to develop in the early years than are single birth children
Allele
Each of two forms of a gene located at the same place on the autosomes A pair can be homozygous or heterozygous
Dominant-recessive inheritance
a pattern of inheritance in which, under heterozygous conditions, the influence of only one allele is apparent The allele that is apparent in heterozygous conditions is referred to as dominant The one that is apparent only in the homozygous condition is referred to as recessive
Recessive carrier
A heterozygous individual is a carrier for the recessive trait
Phenylketonuria or PKU
One of the most frequent occurring recessive disorders. It effects how the body breaks down proteins in many foods. By year one infants with PKU are permanently restarted if not treated. If treated they still show some issues with certain cognitive skills but they will have an average intelligence and life span.
Modifier genes
Genes that can enhance or dilute the effects of other genes Thus, even if two siblings inherit a given gene from their parents, they may display the trait to different extents
It’s ______ for serious diseases to be due to _______ alleles
It’s rare for serious diseases to be due to dominant alleles
Huntington Disease
An example of the rare dominant disorders. It is a condition where the nervous system degenerates. It occurs because the symptoms do not occurs to the age of 35 or later.
Incomplete dominance
a pattern of inheritance in which both alleles are expressed in the phenotype, resulting in a combined trait, or one that is intermediate between the two An example here is sickle cell anemia Individuals who are heterozygous show symptoms under conditions of oxygen deprivation, such as during intense exercise or at high altitudes
x-linked inheritance
When a harmful allele is carried on the x chromosome Males are more likely to be affected because they don’t have another x chromosome to have an allele that could be dominant and counter act it.
hemophilia
A disorder that is x-linked in its inheritance Blood fails to clot normaly.
Genomic imprinting (aka genetic imprinting)
A pattern of inheritance in which alleles are imprinted, or chemically marked, in such a way that one pair member is activated, regardless of its makeup This is often temporary; the imprinting may be erased in the next generation, and doesn’t seem to occur in everyone Examples include an increased likelihood of inheriting diabetes from one’s father and an increased likelihood of inheriting asthma or hay fever from one’s mother
Prader-Willi syndrome
A disorder with symptoms of mental retardation and severe obesity Genomic imprinting is involved
Mutation Germline mutation Somatic mutation
A sudden but permanent change in a segment of DNA Some mutations affect single genes, while others affect multiple genes One well-known cause of mutations is ionizing radiation exposure in either parent Germline mutation takes place in the cells that will produce gametes Somatic mutation takes place in body cells and can occur any time in life
Polygenic inheritance
A pattern of inheritance in which many genes affect the characteristic in question Traits that vary from one individual to another as a matter of degree, rather than type or category, are generally polygenic Height, weight, skin tone, intelligence, personality traits, all seem to be polygenic in nature
Chromosomal Abnormalities
Chromosomal abnormalities represent a major cause of serious developmental problems Most of the time, this results from mistakes during meiosis Many autosomal abnormalities result in miscarriage Abnormalities of the sex chromosomes are comparatively more likely to result in live birth. Often, these abnormalities are not even apparent until adolescence
Down syndrome or trisomy 21
Is the most common chromosomal disorder Characteristics of individuals with Down syndrome include: • Flattened face • Protruding tongue • Almond-shaped eyes • An unusual crease running across the palm of the hand • Eye cataracts • Hearing loss • Heart and intestinal defects • Short, stocky build • Mental retardation • Speech difficulties • Limited vocabulary • Slow motor development Infants with Down syndrome often have breathing and feeding difficulties They smile less readily, show poorer eye contact, and are less persistent in exploring objects This makes them particularly challenging to care for, but an enriched environment can be extremely important in influencing their outcomes If they survive past 40 they often develop symptoms of Alzheimer’s
Myths about individuals with sex chromosome disorders
Males with XYY syndrome and not necessarily more aggressive or antisocial Most with sex chromosome differences do not suffer from mental retardation Intellectual problems are usually very specific
Turner syndrome
Occurs when an ovum is fertilized by a sperm with no sex chromosome, or (less likely) when a sperm with an X chromosome fertilizes an ovum with no sex chromosome This will usually result in a spontaneous abortion, but not always A baby with Turner syndrome is female in appearance, but the ovaries have already begun to disappear by birth, and don’t produce the hormones necessary for the sex differentiation process to continue Women with Turner syndrome don’t develop breasts or menstruate unless given hormone therapy Women with Turner syndrome are typically short, with an unusual neck and chest structure They demonstrate deficiencies in spatial skills, mathematics, attention, and social interaction
Klinefelter’s syndrome
Occurs when a male inherits an extra X chromosome Normal male appearance until puberty, when secondary sex characteristics develop Often somewhat timid and unassertive in their interpersonal interactions Testosterone injections, beginning at puberty, have been found to help development in some cases
Supermale syndrome
Occurs when the sperm provides two Y chromosomes Males produced when this occurs have large body builds and masculine personality characteristics They may exhibit poor frustration tolerance, an increased risk for learning difficulties, and poor physical coordination
Fragile-X syndrome
Abnormality of the X chromosome caused by a defective gene and associated with mild to severe mental retardation Most common cause of mental retardation Note that most females with this disorder display only mild cognitive impairments, if any
Triple X or “superfemale” syndrome (XXX)
Female, normal in appearance, produce children with the usual number of sex chromosomes, below average in intelligence, particularly verbal reasoning
Genetic counseling
a communication process designed to help couples assess their chances of giving birth to a baby with a hereditary disorder and choose the best course of action in view of risks and family goals Often sought by people who have had difficulties bearing children, who are outside the ‘ideal’ childbearing age range, or who have a family history of genetic problems