Hereditary & Environmental

Health, Diseases, Medication effectiveness

Human gene identification

Genetic counseling and genograms which are preidgrees

Designer babies, Patient privacy, Insurance Compaines, Untreatabel disorders, Partner Choices, Anxiety r/t known risk, Lifestyle changes (cautious or reckless)

Basic building block genes and chromes (long groups of DNA make genes, groups of genes make chromosomes), Made of sequences of base pairs that dertmine which amino acids will be assembled, DNA writes the blue print for the development of proteins and enzymes in the body -Some proteins form structures of body cells -Some enzymes control metabolic processes

Segments of DNA that direct production of products necessary for structure or function, Over 23,000 genes exist, Alleles: Alternate forms of genes that code for the same trait (i.e. hair color, eye color etc.), Genes impact disordered evident at birth (congenital) and those that develop later in life, Some genes mutations maybe harmless while others may be harmful

Alternate forms of genes that code for the same trait (eye color, hair color etc.)

Genes are organized in 46 paired chromosomes 23 from moms egg, 23 from dads sprem, Each chromosome has varying numbers of genes, Gamates: The egg or sperm cells which only have 23 chromosomes (all other body cells have 46 chromosomes)

The number & appearance of chromosomes in the cell nuclei. Before chromosomes are arranged in a karyotype they look jumbled together. The box in the bottom left are the karyotypes organized.

Genetic composition (what DNA says or the genetic code i.e. could be a carrier for a gene but not have trait that would be in the genetic composition)

Observable characteristics

Monsomy, Trisomy, Polyploidy

Missing chromosome, Most often incompatible with life with the exception being Turner syndrome

Extra chromosome, chromosome 21 (downs), 13 & 18 rare and severe, Increased incidence with AMA

Extra sets of chromosomes, Usually results in SAB

When part of a chromosome is missing or added, DNA may be rearranged which is Translocation, Two chromosomes could be adhered to each other, There could be fragility of part of the chromosome -Fragile x syndrome

Result from interaction between genetic and environmental factors, Typically present and detectable at birth, Isolated defects may fave related problems, Most common types: Heart defects Neural tube defects Cleft lip / palate, Risk factors: Incidence & severity in relatives Geneder Geographic location

Avoid teratogens, Manage diseases, Promotes healthy development, Mechanical Disruptions to fetal development

Maternal infection agents, Drugs, Pollutants, Ionizing Radiation, Maternal hyperthermia (temp over 102)

Approprtiate medical therapy, Example: Diabetes, HTN etc

400mcg folic acid daily

Oligohydraminos, Fibrous amniotic bands (can amputate limbs etc)

Twins are the most common, Associated risks: PTL, SGA, PPH, PreE, GDM, High multifetal pregnancies: triplets or higer -Greater risks for mom and babies -Incidence of long term handicaps increases with the number of fetuses

Monozygotic (identical), Dizygotic (fraternal)

One sperm fertilizes one egg and then it divides, Same gender and genetics, Higher rate of birth defects, Can be mono-mono, mono-di, di-di (look at photo)

Can be identical or fraternal, 2 amnions (sacs), 2 chorions (placenta)

Identical twins only, 1 chorion (placenta), 2 amnions (sacs)

Identical twins only, 1 amnion (sac), 1 chorion (placenta)

Always Di-di, Two egg are fertilized by two sperm, Any combinations of genders and genetics, comparable to siblings, May run in families where women ovulate more than one egg at a time, More common with fertility treatments

Discovered basic principles of genetic inheritance by studying pea plants, Determined some traits to be dominant and others to be recessive

A trait carried on one of the 22 non-sex chromosomes

A trait carried on the 23rd pair of chromosomes (sex chromosomes). Most traits are passed on the X chromosome not the Y

A strong trait that needs only one gene to present itself

A weak trait that needs two copie of the gene to present itself

When the two paired genes are the same (BB, bb)

When the two paired genes are different (Bb)

When a person does NOT display a trait but the can pass it on to their offspring (hidden). Exists in recessive traits only! Must be heterozygous. Does not exist in dominant traits because it only takes one gene to present dominant traits.

Autosomal dominance (BB, Bb), Austosomal Recessive (Bb, Bb), Sex linked dominance (XX, XY, X*X, X*X*, X*Y), Sex linked recessive (XX, XY, X*X, X*X*, X*Y)

Diagrames to predict statistical outcomes of traits in offspring, 50% of offspring will be XX = Female, 50% of offspring will be XY = Male

Traits carried on the 22 pairs of autosomal chromosomes, B: Upper case = dominate traits, b: Lowercase = recessive traits

Autosomal Dominant traits are STRONG traits that need only 1 copy of trait to be demonstrated, Non-sex chromosome (autosomal), NO “Carriers” for dominant traits, Typically a strong family history, Example being brown eyes, BB: Homozygous, will have the trait, Bb: Heterozygous, will have the trait, bb: Homozygous, will NOT have the trait, Focus on: Big B since this is a dominant trait

Huntington’s Disease (HD), Is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain, It deteriorate a person’s physical and mental abilities during their prime working years and has no cure

Carriers do not exist in dominant traits, Carrier state only exits in recessive traits, In dominant traits, th person either has the disorder or does not have the disorder. There are no “hidden” carriers

75% have brown eyes (BB, Bb, Bb), 25% have blue eyes, 50% are heterozygous (Bb), 50% are homozygous (BB, bb)

Carriers DO NOT EXIST in dominant traits, Carrier state only exists in recessive traits (0% carriers for HD), In dominant traits the person either has the disorder, or does not have the disorder. NO hidden carriers

50% have HD (BB, Bb), 50% do NOT have HD (bb,bb), 50% are heterozygous (Bb), 50% are homozygous (BB or bb)

WEAK traits that need TWO copie of a trait to be demonstrated, Non-sex chromosome (autosomal), Recessive triads can occur more frequently in certain populations, Carrier state exists only if HETEROZYGOUS, MUST have two homozygous recessive genes to display the trait, Example recessive Blue eyes, bb: homozygous, will have the trait, Bb: heterozygous carrier, will NOT have the trait, BB: Homozgyous, will NOT have the trait, FOCUS ON: Little “b” because this is a recessive trait?

PKU is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body when person with PKU eats foods that contain PROTEIN or eats ASPARTAME (artificial sweetener), This can eventually lead to serious health problems

Carrier DO NOT PRESENT with the trait (hidden) but can pass the trait on, Carriers must be heterozygous, Carrier state only exists in recessive traits

50% have blue eyes (bb), 50% have brown eyes (BB or Bb), 50% are heterozygous carriers (Bb), 50% are homozygous (BB or bb)

Carriers DO NOT present with the trait (hidden) but can pass the trait on. They must be heterozygous., Carrier state only exits in recessive traits

0% have PKU (bb), 100% are carriers (Bb), 0% do not have PKU AND are NOT carriers (BB), 100% are heterozygous (Bb), 0% are homozygous (BB, bb)

Traits carried on the sex chromosome (23rd pair), XX used for mothers or female genetics, XY used for fathers or male genetics, An asterisk is used to denote where the sex linked traits is carried on the X chromosome (for both recessive and dominate traits), X* = Sex linked trait to be calculated

Very few genes are carried on the Y chromosome, The genes that ARE carried on the Y chromosomes are mostly related to determining gender, Therefore, with Sex-linked traits, we are looking at genes on the X chromosome, Sex-linked think X-linked

STRONG traitors that need only 1 copy of a trait to be demonstrated, Carried sex on chromosome (= X chromosome), No “Carries” for dominant traits, Both males and females only need on dominant gene to demonstrate the trait, X*X* = homozygous, will have the trait, X*X = heterozygous, will have the trait, XX = homozygous will NOT have the trait, X*Y = males with one abnormal gene will have the trait, XY = will not have the trait

Polydactyly, Refers to the presence of an extra digit or extra digits, Is most frequent in Indian populations, The Second most common congenital hand disorder

Carrier state only exits in recessive traits = 0%, In dominant traits, the person either has the disorder or does not have the disorder no hidden carriers

50% have Polydactyly (X*X*, X*X* would be X*Y but not for this particular example), 50% do not have Polydactyly (XX or XY), 100% of daughters have Polydactyly (X*X or X*X*), 100% of sons do not have Polydactyly (XY)

Carrier state only exists in recessive traits = 0% carriers, In dominant traits the persons either has the disorder or doesn’t their is no hidden traits

50% have Polydactyly (X*Y, X*X), 50% do not have Polydactyly (XX or XY), 50% of daughters have Polydactyly (X*X), 50% of sons have Polydactyly (X*Y)

WEAK traits that need TWO copies of the trait to be demonstrated except for in males, Carrie on sex chromosome, Carrier state ONLY exits in heterozygous FEMALES, Females: MUST have two homozygous recessive genes to display the trait, Males: ONLY need on abnormal genes to display the trait since they do not have another “normal” X to counteract the abnormal gene, X*X* = homozygous will have the trait, X*X = heterozygous carrier will NOT have the trait, XX = homozygous will NOT have the trait, X*Y = males with one abnormal gene will have the traits, XY = males will NOT have the trait

Duchenne’s Muscular dystrophy (DMD), A progressive form of muscular dystrophy that occurs primarily in males, DMDcauses progressive weakness and loss (atrophy) of skeletal and heart muscles

Carriers do no present with the hidden trait but can pass it on, Carriers Must be heterozygous females, Males cannot be carriers, Carrier state only exits in recessive traits

0% have DMD (X*X* or X*Y, 100% do not have DMD (XX, X*X or XY), 100% of daughters are heterozygous carriers (X*X)

Carriers do not present with the trait, Must be heterozygous females, Males cannot be carriers, Carrier state only exists in recessive traits

25% have DMD (X*Y), 75% do not have DMD (X*X, XX, or XY), 50% of SONS have DMD (X*Y), 0% of daughters have DMD (X*X*), 50% of daughters are carriers (X*X)

Hunington’s disease, Brown eyes

Blue eyes, PKU Phenylketonuria

Polydactyly