What Is Ehlers-Danlos Syndrome?

Chromosome 1 is like other somatic chromosomes. Generally, there are two chromosomes 1 in cells in the human body. On chromosome 1, it is entangled with about 245,522,847 nucleotide base pairs (), which contains about 8% of DNA in human cells. This chromosome is the last chromosome to be sequenced by the Human Genome Project.

Chromosome 1

On May 18, 2006, scientists from the United States and Britain published on the online edition of the British "Nature" magazine the genetic sequencing of the last human chromosome, chromosome 1, and the "Book of Life" to interpret the human genetic code was announced.

Scientists believe that successfully deciphering chromosome 1 will provide guidance for the study of more than 350 diseases such as cancer, Parkinson's disease and Alzheimer's disease.

Identifying genes on chromosomes is part of genetic research. In 2000, 897 genes were identified; according to 2007 NCBI data, chromosome 1 contains a total of 2782 genes. It took the Human Genome Project 20 years to sequence these sequences.

In addition, single nucleotide polymorphism (SNP; nucleotide variation) is about 74,000 in chromosome 1.

Here are some genes in chromosome 1 and their effects or products:

* ACADM: C-4 to C-12 straight chain of Aacyl-Coenzyme A dehydrogenase.

* ASPM: Determines brain size.

* COL11A1: Collagen, type XI, alpha 1

* CPT2: carnitine palmitoyltransferase II.

* DBT: dihydrolipoamide branched chain transacylase E2.

* DIRAS3: DIRAS family, GTP-binding RAS-like 3

* ESPN: espin (autosomal recessive deafness 36)

* F5: coagulation factor V (proaccelerin, labile factor)

* FMO3: flavin containing monooxygenase 3

* GALE: UDP-galactose-4-epimerase

* GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)

* GJB3: gap junction protein, beta 3, 31kDa (connexin 31)

* GLC1A: gene for glaucoma

* HFE2: hemochromatosis type 2 (juvenile)

* HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)

* HPC1: prostate cancer gene.

* IRF6: Connective tissue forming gene. gene for connective tissue formation

* KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4

* KIF1B: kinesin family member 1B

* LMNA: lamin A / C

* MFN2: mitofusin 2

* MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)

* MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)

* MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase

* MUTYH: mutY homolog (E. coli)

* PARK7: Parkinson disease (autosomal recessive, early onset) 7

* PINK1: PTEN induced putative kinase 1

* PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1

* PPOX: protoporphyrinogen oxidase

* PSEN2: presenilin 2 (Alzheimer disease 4)

* SDHB: succinate dehydrogenase complex subunit B

* TSHB: thyroid stimulating hormone, beta

* UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)

* USH2A: Usher syndrome 2A (autosomal recessive, mild)

Here are some diseases related to genes on chromosome 1:

* Alzheimer's disease

* Alzheimer's disease type 4

* Breast Cancer

* Carnitine palmitoyltransferase II deficiency

* Charcot-Marie-Tooth disease

* Charcot-Marie-Tooth disease, type 1

* Charcot-Marie-Tooth disease, type 2

* collagenopathy, types II and XI

* Congenital hypothyroidism

* Congenital deafness, autosomal recessive deafness 36

* Ehlers-Danlos syndrome

* Ehlers-Danlos syndrome, kyphoscoliosis type

* Factor V Leiden thrombophilia

* Familial adenomatous polyposis

* Galactosemia

* Gaucher disease

* Gaucher disease type 1

* Gaucher disease type 2

* Gaucher disease type 3

* Gaucher-like disease

* Glaucoma

* Hemochromatosis

* Hemochromatosis, type 2

* Hepatoerythropoietic porphyria

* Homocystinuria

* Hutchinson Gilford Progeria Syndrome

* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

* maple syrup urine disease

* medium-chain acyl-coenzyme A dehydrogenase deficiency

* Microcephaly

* Muckle-Wells Syndrome

* Nonsyndromic deafness

* Nonsyndromic deafness, autosomal dominant

* Nonsyndromic deafness, autosomal recessive

* Parkinson's Disease

* Pheochromocytoma

* Porphyria

* Delayed skin porphyria (porphyria cutanea tarda)

* Popliteal pterygium syndrome

* Prostate cancer

* Stickler syndrome

* Stickler syndrome, COL11A1

* trimethylaminuria

* Hereditary deafness-Usher syndrome

* Usher syndrome type II

* Van der Woude syndrome

* Variegate porphyria

Gregory said: "The completion of human last chromosome sequencing, which puts an end to the genome project, marks the climax of biological and medical research based on human gene sequencing." Scientists predict that within the next 10 to 20 years, Genetic medicine will enter the golden age.