Bhavesh Gahlotalmost 6 years ago

Chromosome 1

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells. There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's disease, glaucomaand breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth. Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. Some partial deletions and partial duplications produce birth defects. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome): 1q21.1 deletion syndrome 1q21.1 duplication syndrome Alzheimer's disease Breast cancer Brooke Greenberg Disease (Syndrome X) Carnitine palmitoyltransferase II deficiency Charcot–Marie–Tooth disease, types 1 and 2 collagenopathy, types II and XI congenital hypothyroidism Ehlers-Danlos syndrome Factor V Leiden thrombophilia Familial adenomatous polyposis galactosemia Gaucher disease Gaucher-like disease Gelatinous drop-like corneal dystrophy Glaucoma Hearing loss, autosomal recessive deafness 36 Hemochromatosis Hepatoerythropoietic porphyria Homocystinuria Hutchinson Gilford progeria syndrome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death maple syrup urine disease medium-chain acyl-coenzyme A dehydrogenase deficiency Microcephaly Muckle-Wells Syndrome Nonsyndromic deafness Oligodendroglioma Parkinson disease Pheochromocytoma porphyria porphyria cutanea tarda popliteal pterygium syndrome prostate cancer Stickler syndrome TAR syndrome trimethylaminuria Usher syndrome Usher syndrome type II Van der Woude syndrome Variegate porphyria