Sunday, February 27, 2011

If this disease is genetic-- what are the possible genotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality?

Cystic Fibrosis is a genetic disease that is autosomal recessive.  Therefore both of the child’s parents had to have been heterozygous (carriers) for Cystic Fibrosis.  Also both of the parents had to of passed on their recessive gene to their child.  Below is an example of what the parent’s genotypes HAD to of been….                        

FF
Ff
Ff
ff
                                                         
                             
Cystic Fibrosis is also a chromosomal abnormality of 1 gene (Chromosome 7).  Chromosome 7 controls the normal production of CFTR.  A person with Cystic Fibrosis has absent or defective CFTR production which leads up to mucus in lungs and problems with pancreas function and food absorption. 

Wednesday, February 23, 2011

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

To inherit Cystic Fibrosis, which is a genetic disorder, both of the child’s parents had to of had a gene defeat that they passed on to their offspring.  A child will inherit this genetic disorder only if he/she inherits both of the defective copies of the gene.  The defective gene that causes Cystic Fibrosis is located on chromosome 7.  Chromosome 7 controls the normal production of a protein called Cystic Fibrosis Transmembrane Regulator (CFTR).  A mutation on this gene leads to defective CFTR production.  Which means that the child had a one: four chance of inheriting the disorder and was in that 25%.   

What is a Genetic Counselor?- Qualifications, Education, Job Details?

A Genetic Counselor plays a big role in the medical field as far as genetic diseases go.  A Genetic Counselor is a health professional with specialized graduate degrees and experience in the areas of medical genetics and counseling.  They also work as members of a health care team that gives information and support to families who have members with birth defects or genetic disorders.  They also give information to families who may be at risk for a variety of inherited conditions.  There are five types of Genetic Counselors; Clinical, Commercial, Diagnostic Laboratories, Education and Public Policy, and research.  A Clinical Genetic Counselor works with patients and families in hospitals, private practice, or to consult with families.  You can also specialize in Prenatal, Pediatric, Cancer-risk, adult, cardiovascular, hematology, and neurogenetics.   A commercial counselor works with bio tech companies to design, sell, and administer genetic tests.  A Genetic Counselor that works in the Diagnostic Laboratory works as a liaison between the diagnostic laboratory and referring physicians to their patients.  If you wanted to work in the Education and Public Policy part of the field, you would teach and advise companies, students, and lawmakers.  And the last type of Genetic counselor is a research counselor; who works as study coordination for research projects involved with genetics.  As far as education goes, a genetic counselor has to have a masters degree from one of the over thirty United States graduate programs.  The average income for a Genetic Counselor with a master’s degree with five to nine years of experience in 2006 was roughly $61,268.  Then in 2008 the median salary for a counselor was $54,832.