Genetics

Question 1

What are the problems associated with down syndrome?

Answer 1

Heart defects, intestinal abnormalities, hearing loss, vision problems, infections, and memory loss

Question 2

amniocentesis

Answer 2

removal and examination of a small sample of amniotic fluid that surrounds the fetus, usually done 15-20 weeks, highly accurate in diagnosing and ruling out down syndrome

Question 3

Klinefelter syndrome

Answer 3

results in an extra X chromosome to make XXY. even those these individuals are male their masculinization is incomplete.

Question 4

turner syndrome

Answer 4

result is an offspring with 22 pairs of autosomes and a single unmatched x chromosome (XO). This embryo is more likely to be spontaneously aborted. Characterized by short and wide chests and a prominent fold of skin on their necks. They are sterile, have low levels of estrogen, and small breasts. Mental retardation is not associated with this disorder.

Question 5

Mendelian

Answer 5

phenotypes due to alterations at a single gene

Question 6

Dominant traits

Answer 6

require only one copy of a factor to be expressed

Question 7

What is the inheritance pattern of an autosomal recessive inheritance?

Answer 7

inheritance is usually from both parents, each of whom is a heterozygote (carrier) and each of whom is usually clinically unaffected by his or her carrier status.

Question 8

mitochondrial inheritance

Answer 8

transmission of mitochondrial DNA is maternal. Mother will pass he mitochondrial DNA including mutant DNA to all of her children. Affected males do not pass on the gene.

Question 9

karyotyping

Answer 9

human cells are grown in a culture, chromosomes are sorted and arranged into pairs, sex chromosomes are placed in lower right hand corner, use hybridization with fluorescent DNA

Question 10

What is a newborn tested for when testing for cystic fibrosis?

Answer 10

increased levels of immunoreactive trypsinogen (IRT) a pancreatic protein linked to cystic fibrosis

Question 11

What does the mesoderm give rise to during development?

Answer 11

body tissues, such a muscle, cartilage, bone, and dermis, blood vessels, reproductive organs, blood, enamel of the teeth

Question 12

When is the critical period for teratogenesis?

Answer 12

during week 3-16, this is when many organs are formed

Question 13

What are some types of pharmacological teratogens?

Answer 13

thalidomide, diethylstilbestrol, retinoic acid

Question 14

What are some types of infectious agent teratogens?

Answer 14

toxoplasma gondii, rubella, cytomegalovirus, herpes, congenital syphilis

Question 15

What are some types of industrial agent teratogens?

Answer 15

lead, mercury, pesticides

Question 16

What are some recreational teratogens?

Answer 16

alcohol, tobacco, cocaine

Question 17

Thalidomide

Answer 17

A very teratogenic drug! In the 1950s it was given to women to treat morning sickness. Causes Amelia which is complete absence of a limb or limbs. Meromelia which is only partial absence of a limb. Phocomelia which is absence of the longs bones of the legs or arms.

Question 18

Diethylstilbestrol (DES)

Answer 18

Estrogen that was used to prevent spontaneous abortion. Some studies show an increase in risk of breast cancer. Of DES daughters some developed vaginal clear-cell adenocarcinoma. Structural defects in cervix, uterus, and fallopian tubes. There was a decrease in fertility.

Question 19

How does taking excessive vitamin A during pregnancy affect offspring?

Answer 19

Cleft lip, cleft palate, cardiac defects, and hydrocephalus is the most common central nervous system defect

Question 20

What are the effects of taking ACE inhibitors during pregnancy?

Answer 20

During 2nd and 3rd trimester there is renal dysfunction, growth retardation, fetal demise, oligohydraminos. During 1st trimester there can possibly be cardiac defects and central nervous system defects.

Question 21

What are some medication names for anticonvulsants?

Answer 21

Valproic acid, Carbamazepine, Phenytoin

Question 22

What are the effects of taking NSAIDs during pregnancy?

Answer 22

During 1st trimester there can be cardiac ventricular and septal defects. During 3rd trimester the results are a baby with pulmonary hypertension.

Question 23

What are the characteristics features of a offspring with fetal alcohol syndrome?

Answer 23

behavior disturbances, brain defects, cardiac defects, spinal defects, craniofacial anomalies, absent or hypoplastic philtrum, broad upper lips, flattened nasal bridge, hypoplastic upper lip vermilion, micrognathia, short nose, short palpebral tissues

Question 24

What are some manifestations of congenital syphilis in a newborn?

Answer 24

nasal discharge white to bloody, hepatomegaly, rash, CNS involvement are seizures and hydrocephalus, long bone abnormalities

Question 25

amyloid plaques

Answer 25

abnormal deposits of a protein called beta amyloid that is found in the space between neurons, this change occurs with Alzheimer’s disease

Question 26

amyloid precursor protein

Answer 26

chromosome 21, gene associated with early on-set of Alzheimer’s disease

Question 27

presenilin 1

Answer 27

chromosome 14, associated with early-onset AD, abnormalities in the gene lead to an overproduction of more toxic beta-amyloid peptide proteins

Question 28

presenilin 2

Answer 28

chromosome 1, associated with early on-set AD but is rare, perhaps causes and increases apoptosis in neurodegeneration

Question 29

apolipoprotein E

Answer 29

most identified gene involved in late on-set Alzheimer’s disease, found on chromosome 19, APOE epsilon 4 appears to increase risk for AD, this is susceptibility gene not a determinant gene, not everyone with this will get AD