HLTH 101 Final: D

73 views36 pages

amethystant495

16 Oct 2011

School

Department

Course

Professor

For unlimited access to Study Guides, a Grade+ subscription is required.

Document Summary

1902: 1st inherited disease alkaptonuria (dark urine) Garrod (1909) inborn errors of metabolism . Both classical and molecular: classical: search for heritable traits i. e. , genetic epidemiology, molecular genetics: Assesses nature of genetic contribution (what s the genetic code and what protein does it code for?, etc. ) Manipulation of genetic information directly: questions: Carrier screening (find what alleles people are carrying) Post-conception/prenatal/early postnatal screening (test fetal cells for alleles) Introduction: gene -> or in, suceptibilty to disease, severity of disease. Combined suceptability/resistance genes: known gene cinfluence (gene -> enzyme, effects vary (environmental factors) Deficient rbc destroyed hemolytic anemia (destruction of. Merozoytes adapt to 1 type rbc (oxygen. Cancer, neoplasia, mlignancy: impact of cancer, canada, lifetime risk (can. Fall 2010 iff aggressive tumor may have rapid growth decreased probability of being detected early slow tumor more likely to be detected at an earlier stage.

Related Questions

Questions 4-6. Sickle cell disease:
Sickle cell disease (sickle cell anemia) is a relatively common disorder in individuals of

African descent and affects approximately 1 in 500 African-Americans. Due to a mutation in an autosomal gene for hemoglobin, the homozygous recessive genotype leads to red blood cells that are relatively stiff and sticky, and deform into a sickle shape as they lose oxygen. This leads to problems in the spleen, and anemia.

There are hundreds of different hemoglobin alleles. Individuals heterozygous for the sickle cell allele and one non-sickle cell allele usually do not experience major complications or even noticeable symptoms. A genetic test is available to diagnose carriers.

James does not have sickle cell disease, neither does his mother or father, but his sister does. His wife Natasha does not have sickle cell disease, and neither of her parents does either. Natasha also has a sister who has sickle cell anemia and two brothers without the disease.

5.) If James and Natasha have a child, what is the probability that the child would be a homozygote for the recessive allele and have sickle cell disease? You may draw the Punnet square but please solve the problem using probability calculations, then explain your reasoning in 2-5 complete sentences.

cyanalligator893

Topic: Obesity
Prevention and Treatment.
1. what kind of actions or behaviors can prevent or reduce the severity of the disease?
2 Does testing or screening for the disease include genetic testing?
3How is the disease treated? Are there genetic related treatments ?
4 what role does the environment plays in the prevention of the disease?

silverzebra677

1) Hydroxyurea has been proposed as a dramatic drug treatment for sickle cell anemia. It is thought to function by stimulating the afflicted personâs synthesis of fetal hemoglobin. The exact mechanism of how hydroxyurea stimulate fetal hemoglobin synthesis is unclear but it is believed that hydroxyurea is metabolized to NO, which binds to a soluble guanylate cyclase enzyme, which then catalyzes the synthesis of a second messenger, cyclic GMP (cGMP). The cGMP interacts with transcription factors in a manner that is not completely understood to induce transcription (then translation) of the fetal hemoglobin gene.

a) In a clinical study, patients who took hydroxyurea showed 50% reduction in frequency of hospital admissions for severe pain, and there was also a decrease in the frequency of abnormal chest x-rays. Why would increasing the synthesis of fetal hemoglobin result in alleviating the symptoms of sickle cell anemia?

(b) Medical practitioners who used hydroxyurea as a treatment for sickle cell anemia noted that their patients seemed to benefit from the administration of the drug long before the synthesis of fetal hemoglobin had time to take effect. It has recently been determined that hydroxyurea can react directly with the iron ion of oxy- and deoxyHb to form iron nitrosyl hemoglobin (HbNO). Why would this be of benefit to the sickle cell anemia patient?

HLTH 101 Final: D

Document Summary

Get access

Related Documents

BIOLOGY 2C03 Study Guide - Midterm Guide: Zygosity, Hemoglobin, Anemia

NUR 349 Lecture 1: Sickle Cell Anemia

BIOL 1201 Chapter : BIOL 1201 3 20

Related Questions