|
Even now as you read this, computers at the various
national genome centers are deciphering the DNA
amino acid “codes”. In a single day, they will be
able to sequence 30,000 bases, and, although this
may seem like a lot, one must remember that an estimated
3 billion bases exist. Even if several hundred computers
are involved it will still take many years before
the entire human genome is mapped and sequenced.
So far, 4600 of the estimated 100,00- to 300,000
genes have been identified and of those, complete
sequences of only 600 are known. As each new discovery
is made, it is logged and often published immediately
on the Inernet. Victor A. McKusick, M.D. of Johns
Hopkins University has recorded all of the known
genes into his Mendelian
Inheritance of Man, which is updated and published
annually.
Chromosome 1
1. GBA: cause of Gaucher Disease
2. AD4: Alzheimer’s disease
Chromosome 2
1. MSH2: tendency toward colon cancer
2. PAX3: Waardenburg syndrome causing deafness and
changes in pigmentation
Chromosome 3
1. VHL: tendency towards von Hippel-Lindau Disease
causing tumors of the cerebellum
2. SCLC1: associated with lung cancer
Chromosome 4
1. HD: Huntington’s Disease which damages nerve
cluster in the brain causing dementia and seizures
2. EVC: Ellis-van Creveld Syndrome causes six fingered
dwarfism in primarily Amish communities
Chromosome 5
1. DTD: diastrophic sysplasia results when this
gene mutates
2. SRD5A1: human steroid 5-alpha reductase
Chromosome 6
1. SCAI: tendency towards spinocerebellar atrophy,
causing loss of muscle coordination
2. IDDMI: Juvenile diabetes
Chromosome 7
1. CFTR: tendency towards cystic fibrosis
2. OBS: tendency towards obesity
Chromosome 8
1. WRN: Werner’s Syndrome causing premature accelerated
aging
2. MYC: associated with Burkitt lymphoma
Chromosome 9
1. CDKN2: associated with various cancers
2. TSC1: associated with tuberous sclerosis affecting
the kidneys, heart, brain, and retina and causing
retardation and seizures
Chromosome 10
1. MEN2A: associated with multiple endocrine neoplasia
(ZA) syndrome causing tumors of the thyroid, parathyroid
and adrenals.
2. OAT: associated with ornithine aminotransferase
deficiency causing blindness.
|
