KROMOSOM 17 &KROMOSOM 18

KELOMPOK 9Rizqiani Amalia Kusumasari

Satrio WicaksonoSamuel Sandy

Siti Ruqayyah

CHARACTERISTICS

• Chromosome 17– one copy inherited from each parent one of the

pairs

– rich in protein coding genes, having the second highest gene density in the genome

– Chromosome 17 spans about 79 million DNA building blocks (base pairs) and represents between 2.5 percent and 3 percent of the total DNA in cells.

Cont’d

• Chromosome 17 likely contains between 1,200 and 1,500 genes. These genes perform a variety of different roles in the body.

• Ideogram

Jenis-jenis kelainan terkait kromosom 17

•acute promyelocytic leukemia •Alexander disease •Amish lethal microcephaly •Andersen-Tawil syndrome •Birt-Hogg-Dubé syndrome •bladder cancer •breast cancer •campomelic dysplasia •Canavan disease •Carney complex •Charcot-Marie-Tooth disease •common variable immune deficiency •cystinosis •dermatofibrosarcoma protuberans •Ehlers-Danlos syndrome •epidermolysis bullosa simplex •epidermolysis bullosa with pyloric atresia •familial atrial fibrillation •familial hemophagocytic lymphohistiocytosis •Freeman-Sheldon syndrome

•frontotemporal dementia with parkinsonism-17 •galactosemia •glycogen storage disease type I •GRN-related frontotemporal dementia •hereditary folate malabsorption •hereditary neuralgic amyotrophy •hereditary neuropathy with liability to pressure palsies •hyperkalemic periodic paralysis •hypokalemic periodic paralysis •Job syndrome •Leber congenital amaurosis •Li-Fraumeni syndrome •limb-girdle muscular dystrophy •Miller-Dieker syndrome •mucopolysaccharidosis type III •N-acetylglutamate synthase deficiency •neuroblastoma

•neurofibromatosis type 1 •nonbullous congenital ichthyosiform erythroderma •nonsyndromic deafness •osteogenesis imperfecta •pachyonychia congenita •paramyotonia congenita •Pompe disease •pontocerebellar hypoplasia •potassium-aggravated myotonia •progressive supranuclear palsy •pyridoxal 5'-phosphate-dependent epilepsy •short QT syndrome •Smith-Magenis syndrome •SOST-related sclerosing bone dysplasia •spondylocostal dysostosis •tetra-amelia syndrome •Usher syndrome •very long-chain acyl-CoA dehydrogenase deficiency •vitiligo

Genes on chromosome 17

•ACADVL•ACTG1•ALOX12B•ALOXE3•ASPA•BRCA1•BRIP1•COL1A1•CTNS•ERBB2•FLCN•G6PC•GAA•GALK1•GFAP•GRN•GUCY2D•HES7•ITGB4•KCNJ2•KRT14•KRT16•KRT17•MAPT•MYH3•MYO15A

•NAGLU•NAGS•NF1•NLRP1•PAFAH1B1•PMP22•PNPO•PRKAR1A•RAI1•RARA•SCN4A•SEPT9•SGCA•SGSH•SLC25A19•SLC46A1•SOST•SOX9•STAT3•TNFRSF13B•TP53•TSEN54•UNC13D•USH1G•WNT3•YWHAE

Changes in conditions of Chr-17

ACUTE PROMYELOCYTIC LEUKEMIA caused by a rearrangement (translocation) of genetic

material between chromosomes 15 and 17 [t(15;17)] fuses part of the PML gene from chromosome 15 with

part of the RARA gene from chromosome 17. • somatic mutation not inherited. • The t(15;17) translocation is called a balanced

reciprocal translocation • The protein produced from this fused gene is known as

PML-RARα.

Scheme of acute promyelocytic leukemia

PML gene (chr-15) >< RARA gene (chr-17)

[t(15;17) balanced reciprocal translocation]

PML-RARα

RARαa protein tumor suppressor

blood cells are stuck at the promyelocyte stage, and they proliferate abnormally. Excess promyelocytes accumulate in the bone marrow and normal white blood cells cannot form, leading to acute promyelocytic leukemia.

Chromosome 18– one copy inherited from each parent, form one of

the pairs.

– Chromosome 18 spans about 76 million DNA building blocks (base pairs) and represents approximately 2.7 percent of the total DNA in cells.

CHARACTERISTICS

Normal chromosome 18

Cont’d

Major conditions changes in chr-18

18 p-There is a missing piece from the short arm of chromosome 18.

18q-There is a missing piece from the long arm of chromosome 18. If the missing piece is close to the centromere, it is called proximal 18q-. If the missing piece is close to the end of the chromosome, it is called distal 18q-.

Ring 18One of the copies of chromosome 18 forms a ring, and material is lost from both the long and short arm.

Tetrasomy 18pAn extra chromosome is present. This chromosome is made up of two copies of the short arm of chromosome 18.

Major conditions changes in chr-18

Trisomy 18There are three copies instead of the usual two.

Major conditions changes in chr-18

Genes on chromosome 18

• ATP8B1

• CTDP1

• FECH

• LAMA3

• LPIN2

• NPC1

• SMAD4

• TCF4

• TGIF1

• TNFRSF11A

• TTR

Jenis-jenis kelainan terkait kromosom 18

• congenital cataracts, facial dysmorphism, and neuropathy • Fuchs endothelial dystrophy • hereditary hemorrhagic telangiectasia • junctional epidermolysis bullosa • juvenile polyposis syndrome • Majeed syndrome • Niemann-Pick disease • nonsyndromic holoprosencephaly • osteopetrosis • Paget disease of bone • Pitt-Hopkins syndrome • porphyria • progressive familial intrahepatic cholestasis • Transthyretin amyloidosis

Pitt-Hopkins Syndrome (PTHS)

• caused by a mutation within or a complete deletion of the TCF4 gene.

• instructions that tell the body how to grow and develop.

• The TCF4 gene is located on the long arm of chromosome 18.

• Some individuals that have distal 18q- are missing the TCF4 gene.

Changes in conditions of Chr-18

Characteristics:

• PTHS changes the way the brain develops and functions.

• The eyes may be crossed (strabismus) or near-sightedness (myopia)

• Scoliosis or flat feet

• Cryptorchidism

• chronic constipation

• Facial Features

Pitt-Hopkins Syndrome (PTHS)

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ARIGATO GOZAIMASHITAJAZAKILLAH KHAIRAN KATSIRA

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