Current Progress

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.