Today is:  
jewish health,jewish genetic diseases,jewish medical ethics,jewish medicine

GENERAL INFO

Home Page

Genetic Counseling & Screening

Genetic Screening Labs

A Brief Key to Genetics

GENETIC DISEASES

Beta Thalassemia

Bloom's Syndrome

Breast & Ovarian Cancers

Canavan Disease

Crohn's Disease

Colon Cancer

Cystic Fibrosis

Fabry Disease

Factor XI Deficiency

Familial Dysautonomia

Familial Mediterranean
Fever

Fanconi Anemia

G6-PD Deficiency

Gaucher Disease

Glycogen Storage Disease

Joubert Syndrome

Machado Joseph Disease

Maple Syrup Urine Disease

Mucolipidosis type IV (ML4)

Niemann-Pick

Non Classical Adrenal
Hyperplasia

Nonsyndromic Hearing Loss

Tay-Sachs Disease

Torsion Dystonia

Ulcerative Colitis

Walker-Warburg Syndrome

Bookstore

JEWISH GUIDES

Jewish Living Guide

Bar Mitzvah Guide

Jewish Wedding Guide

Jewish Holidays

Kosher Living Guide

Genetic Diseases

Infertility and Judaism

Death & Mourning Guide

INFORMATION

Advertise With Us

About Us

 

 

A Brief Key to Basic Genetics
by Yael Rosenberg, RN

  • Amniocentesis
  • Cell Nucleus
  • Chorionic Villus Sampling (CVS)
  • Chromosome
  • Deoxyribonucleic Acid (DNA)
  • Enzyme
  • Gene
  • Mutation
  • Protein

Amniocentesis
A procedure used for prenatal diagnosis. The amniocenteses procedure involves the insertion of a needle through the abdomen into the amniotic sac from which a small amount of amniotic fluid is obtained. Nowadays, the amniocentesis is performed while using ultrasound as guidance. The amniotic fluid, which includes the fetus’ DNA is used for testing. Amniocentesis is usually performed between 16 and 18 weeks of pregnancy.

Cell Nucleus
Inside the cell nucleus, 6 feet of DNA are packaged into 23 pairs of chromosomes (one chromosome in each pair coming from each parent).

Chorionic Villus Sampling (CVS)
A procedure used for prenatal diagnosis. The CVS procedure involves the insertion of a needle through the abdomen into fingerlike projections of the placenta which are called chorionic villi. This procedure is also performed while using ultrasound as guidance. The chorionic villi obtained is used for DNA testing. CVS is usually performed at 10 to 12 weeks of pregnancy.

Chromosome
The structures found in the nucleus of the cell, called the chromosomes, contain genetic (inherited) information. Human cells contain 23 pairs of chromosomes, a total of 46 chromosomes. Twenty-two pairs of chromosomes are referred to as autosomes, since they do not determine the sex of an individual. The twenty-third pair are the sex chromosomes, generally referred to as the X and Y chromosomes. Each chromosome contains thousands of individual genes. These genes determine an individual’s characteristics.

Deoxyribonucleic Acid (DNA)
The DNA is the chemical sequence found in genes. These sequence allows for the transmission of inherited information from generation to generation.

Enzyme
A substance that in small amounts increases the rate of a specific biochemical reaction is called the enzyme. Enzymes are usually required for the normal metabolism, or breakdown, of substances in the body.

Gene
Each gene is a segment of double-stranded DNA that holds the recipe for making a specific molecule, usually a protein. These recipes are spelled out in varying sequences of the four chemical bases in DNA: adenine (A), thymine (T), guanine (G) and cytosine (C). The bases form interlocking pairs that can fit together in only one way: A pairs with T; G pairs with C.

Human Cell
Each of the 100 trillion cells in the human body (except blood cells contains the entire human genome--all the genetic information necessary to build a human being. This information is encoded in 6 billion base pairs, subunits of DNA. (Egg and sperm cells each have half this amount of DNA.)

Mutation
A mutation is a change in the sequence of DNA. Many mutations are “silent” and do not cause disease. When mutations occur in genes and disrupt the production of a functional protein, they may lead to genetic disease.

Protein
Proteins, which are made up of amino acids, are the body's workhorses--essential components of all organs and chemical activities. Their function depends on their shapes, which are determined by the 50,000 to 100,000 genes in the cell nucleus.

 

SUGGESTED READING

Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
     ------------
Books: Jewish Genetic Diseases

 

 Mazor Guides: Wealth of Information and Resources
- Guide to Jewish Holidays: Jewish Holiday Directory -
- Bar Mitzvah and Bat Mitzvah Guide -
- Guide to a Jewish Wedding -
- Guide to Jewish Celebrations -
- Guide to Kosher Living
- Infertility and Judaism: A Guide
The Get (Gett) - the Jewish Divorce: A Guide -  
Zei Gezunt: Jewish Perspective on Health -
- Jewish Genetic Diseases -
- Death and Mourning in Judaism



Copyright 1998-2020 MazorNet, Inc.

Other Mazornet, Inc. Websites
 http://www.MazorGuide.com  | http://www.MazorRealty.com

web statistics