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http://www.nytimes.com/health/guides/specialtopic/genetics/overview.html?8qa#
It is common knowledge that a person''s appearance -- height, hair color, skin color, and eye color
-- are determined by genes. Mental abilities and natural talents are also affected by heredity, as is
the susceptibility to acquire certain diseases.
Have no consequence to a person''s health or well being -- for example, a white patch of
hair or an extended ear lobe.
For most genetic disorders, genetic counseling is advised. Many people may also want to seek
prenatal diagnosis.
The terms anomaly, abnormality, disorder, defect, disease, and syndrome are not used
consistently, and do not have precise definitions.
Information
Human beings have cells with 46 chromosomes -- 2 sex chromosomes and 22 pairs of autosomal (non-sex)
chromosomes. Males are "46, XY" and females are "46, XX". These chromosomes are made up of extremely
long DNA molecules in combination with proteins.
Genes are defined by intervals along one of the DNA molecules. The location of the gene is called the locus.
Most genes carry information which is necessary to make a protein.
The pairs of autosomal chromosomes (one from the mother and one from the father) carry basically the same
information. That is, each has the same genes, but there may be slight variations of these genes. These slight
differences occur in less than 1% of the DNA sequence and produce variants of a particular gene that are called
alleles.
The information contained in the nucleotide sequence of a gene is transcribed to mRNA (messenger RNA) by
enzymes in the cell's nucleus and then translated to a protein in the cytoplasm. This protein may be a part of
tissue. It may be an enzyme which in involved in a chemical reaction, or it may be a hormone. There are also
many other potential functions for proteins.
If a gene is abnormal, it may lead to an abnormal protein or an abnormal amount of a normal protein. Since the
autosomal chromosomes are paired, there are 2 copies of each gene, one from each parent. If one of these
genes is defective, the other may make enough protein, so that no disease is seen. This is called a recessive
disease, and the gene is said to be inherited in a recessive pattern.
However, if only one abnormal gene is needed to produce a disease, it's called a dominant hereditary disorder.
In the case of a dominant disorder, if one abnormal gene is inherited from mom or dad, the child will likely
show the disease.
A person with one abnormal gene is termed HETEROZYGOUS for that gene. If a child receives an abnormal
recessive disease gene from both parents, the child will show the disease and will be HOMOZYGOUS for that
gene.
If two parents are each heterozygous for a particular recessive disease gene, then each child has a 25% chance
of being homozygous for that gene and therefore, of showing the disease. If one parent is homozygous and the
other heterozygous, then each child has a 50% chance of being homozygous.
A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and
the specific allele on one or both members of a chromosome pair. Single gene defects are rare, with a frequency
of less than 1 in 200 births. But since there are about 6,000 known single gene disorders, their combined
impact is significant.
The incidence of serious single gene disorders is estimated to be about 1 in 200 births.
Single-gene disorders are characterized by the pattern of transmission in families -- this is called a pedigree.
The term "kindred" includes the relatives outside of the immediate nuclear family. The affected individual that
is first seen (or is of immediate interest) is called the proband. The brothers and sisters of the proband are
called siblings.
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Maternal (mitochondrial) inheritance
The observed effect of a gene (the appearance of a disorder) is called the phenotype. A phenotype expressed in
the same way (in both homozygotes and heterozygotes) is dominant. A phenotype expressed only in
homozygotes (or, for X-linked traits, expressed in males but not females) is recessive.
Heterozygotes for a recessive gene are called carriers. Carriers usually don't show the disease,but the gene can
frequently be identified by sensitive laboratory tests.
In AUTOSOMAL RECESSIVE INHERITANCE, the parents of an affected individual may not express the
disease. On average, the chance of an affected child's brothers or sisters having the disease are 1 in 4. Males and
females are equally likely to be affected. For a child to have symptoms of an autosomal recessive disorder, the
child must receive the defective gene from BOTH parents.
Because most recessive disorders are rare, a child is at increased risk of a recessive disease if the parents are
related. Related individuals are more likely to have inherited the same rare gene from a common ancestor.
In X-LINKED RECESSIVE INHERITANCE, the incidence of the disease is much higher in males than females.
Since the abnormal gene is carried on the X chromosome, males do not transmit it to their sons -- they do
transmit it to their daughters.
The presence of one normal X chromosome masks the effects of the X chromosome with the abnormal gene.
So, almost all of the daughters of an affected man appear normal, but they are all carriers of the abnormal gene.
The sons of these daughters then have a 50% chance of receiving the defective gene.
In X-LINKED DOMINANT INHERITANCE, the presence of the defective gene appears in females even if there
is also a normal X chromosome present. Since males pass the Y chromosome to their sons, affected males will
not have affected sons, but all of their daughters will be affected. Sons or daughters of affected females will
have a 50% chance of getting the disease.
X-linked recessive:
Autosomal dominant:
Familial hypercholesterolemia
Huntington's disease
X-linked dominant:
Only a few, very rare, disorders are classified as X-linked dominant. One of these is hypophosphatemic rickets,
also called vitamin D -resistant rickets.
Down syndrome
Klinefelter syndrome
Turner syndrome
Mitochondria contain their own private DNA. In recent years, more than 20 hereditary disorders have been
shown to result from mutations in mitochondrial DNA. Because mitochondria come only from the egg, most
mitochondria-related disorders are inherited exclusively from the mother.
Mitochondrial disorders can appear at any age with a wide variety of non-specific symptoms and signs. These
disorders may cause metabolic disturbances, developmental delay, blindness, hearing loss, heart rhythm
problems, short stature, and gastrointestinal problems.