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What is a Genome
• A group of genes
• The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
• Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
What is a chromosome?
autism) At least 20 have an extra chromosome 18. (mental disorders. about 750 will abort spontaneously: 139 of the 140 who lack an X or a Y chromosome will abort spontaneously. Among them should be about: 1 with an extra chromosome 18 1 with a missing X or Y chromosome 10 with an extra chromosome 21 15 with an extra X or Y chromosome. Consider the fate of 10. All will be aborted spontaneously. Of these 800: At least 140 are 45. All of those with an extra chromosome 16 will abort spontaneously. (Leukemias.• • • • • • • • • • • • • • • • • • • • • There are about five million conceptions in the United States each year. At least 110 have an extra chromosome 16. There are a variety of conceptions with other chromosomes. About 800 are chromosomally abnormal. 35 of the more than 40 with an extra chromosome 21 will abort spontaneously. They lack an X or a Y chromosome. Down Syndrome) The rest have various different chromosomal abnormalities. Chromosomal abnormalities are an important component of medical practice. and about 20 with abnormal chromosomal rearrangements of various sorts. The remaining 50 individuals with chromosomal abnormalities will make it to birth. Of the 800 chromosomally abnormal conceptions.. X. at least 4 of which will result in Down syndrome. The survivors will have Down syndrome. 19 of the 20 with an extra chromosome 18 will abort spontaneously. (Blood diseases and of the endocrine metabolism) At least 40 have an extra chromosome 21. The survivor will have a very short life expectancy.000 randomly chosen from these five million. .
How many chromosomes do people have? .
Conditions related to genes on chromosome 1 actin-accumulation myopathy adenosine monophosphate deaminase deficiency age-related macular degeneration Alagille syndrome Alzheimer disease amyotrophic lateral sclerosis anencephaly ankylosing spondylitis arrhythmogenic right ventricular cardiomyopathy atypical hemolytic-uremic syndrome autosomal dominant nocturnal frontal lobe epilepsy autosomal recessive primary microcephaly Bartter syndrome 3-beta-hydroxysteroid dehydrogenase deficiency breast cancer cap myopathy carnitine palmitoyltransferase II deficiency catecholaminergic polymorphic ventricular tachycardia Charcot-Marie-Tooth disease Chediak-Higashi syndrome chronic granulomatous disease color vision deficiency congenital fiber-type disproportion congenital hypothyroidism congenital insensitivity to pain with anhidrosis Crohn disease dense deposit disease Diamond-Blackfan anemia dihydropyrimidine dehydrogenase deficiency early-onset glaucoma Ehlers-Danlos syndrome Emery-Dreifuss muscular dystrophy essential thrombocythemia factor V Leiden thrombophilia familial adenomatous polyposi familial cold autoinflammatory syndrome familial erythrocytosis familial hemiplegic migraine familial isolated hyperparathyroidism Fuchs endothelial dystrophy fucosidosis fumarase deficiency galactosemia gastrointestinal stromal tumor Gaucher disease Gitelman syndrome GLUT1 deficiency syndrome glycogen storage disease type III Greenberg dysplasia hemochromatosis hereditary antithrombin deficiency hereditary leiomyomatosis and renal cell cancer hereditary paraganglioma-pheochromocytoma homocystinuria Hutchinson-Gilford progeria syndrome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency hypercholesterolemia hyperparathyroidism-jaw tumor syndrome hyperprolinemia hypohidrotic ectodermal dysplasia hypokalemic periodic paralysis hypophosphatasia idiopathic inflammatory myopathy intranuclear rod myopathy junctional epidermolysis bullosa juvenile idiopathic arthritis Kufs disease Leber congenital amaurosis limb-girdle muscular dystrophy malignant hyperthermia maple syrup urine disease medium-chain acyl-CoA dehydrogenase deficiency Muckle-Wells syndrome multiminicore disease multiple epiphyseal dysplasia nemaline myopathy neonatal onset multisystem inflammatory disease neuroblastoma nonsyndromic deafness nonsyndromic paraganglioma Noonan syndrome osteogenesis imperfecta Parkinson disease popliteal pterygium syndrome porphyria primary myelofibrosis psoriatic arthritis pyruvate kinase deficiency REN-related kidney disease retinitis pigmentosa rhizomelic chondrodysplasia punctata severe congenital neutropenia spina bifida Stargardt macular degeneration Stickler syndrome systemic scleroderma trimethylaminuria Usher syndrome van der Woude syndrome vitiligo .
Behavior Genetics.2 and Nicholas G. Wright. Geffen. Martin1.A Linkage Study of Academic Skills Defined by the Queensland Core Skills Test • All members of Hominidae except humans have 24 pairs of chromosomes. Vol.2. Human chromosome 2 is widely accepted to be a result of an end-to-end fusion of two ancestral chromosomes • The findings suggest that variation in general academic achievement is influenced by genes on chromosome 2 which have broad influence on a variety of cognitive abilities. No.3 Margaret J. 1. 36.1 Grant W. Montgomery. Wainwright.1 Michelle Luciano. Humans have only 23 pairs of chromosomes. January 2006 ( 2006) .1. Mark A.1 Gina M.
Estimated number of genes and base pairs (in mega base pairs) on each human chromosome .
transmission.Disease caused by disturbances in the storage. Existing at birth (intrauterine) • Hereditary Disease . • Congenital Disease . and production of genetic information.Definitions • Genetic Disease .a disease or disorder that is genetically acquired. Caused primarily by chromosomal and gene mutations .a disease or disorder that is inherited genetically.
Determine the cause of a baby's birth defects or disability.KARYOTYPE • • • Determine whether the chromosomes of an adult have an abnormality that can be passed on to a child. Identify the sex of a person by determining the presence of the Y chromosome. Help determine the appropriate treatment for some types of cancer. • • • . Karyotyping also may be done to determine whether chromosomal problems may have caused a fetus to be stillborn. Determine whether a chromosome defect is present in a fetus. Determine whether a chromosome defect is preventing a woman from becoming pregnant or causing miscarriages. This may be done when a newborn's sex is not clear.
Karyotype Down Syndrome .
Nucleic Acid Sequence .
Population Mapping .
Pedigree of a rare recessive phenotype determined by a recessive allele .
Pedigree of a dominant phenotype determined by a dominant allele .
to be expressed again in their sons.Pedigree showing that X-linked recessive alleles expressed in males are then carried unexpressed by their daughters in the next generation. .
• Genes encoding HLA are part of the Major Histocompatibility Complex (MHC) • So named because next to ABO. . it is the principle barrier to transplantation and because of its similarity to the MHC in other species.
• An allele is simply an alternate form of a gene. or genes. • An HLA gene is a sequence of DNA which encodes. or determines. the antigen that is expressed. .ANTIGENS OF THE HLA SYSTEM • An antigen is the specific. expressed product of a gene. One of a series of two or more alternate form of a gene that occupy the same position or locus in a specific chromosome.
MLR-S.0 HLA-H H.4 HLA-G G. HLA-DPA1 DPal.1 1 [SD locus. . 5. B cell antigens] [MT.Y3. 39: 162.9-kB Hind III fragment DR a chain DR Pl chain determining specificities DR1.4 HLA-J cda 12 HLA-DRA DRa HLA-DRB1 DRß1.2 HLA-F F.DS] [PLT locus.DQ28 HLA-DQB3 DVP.AR.DnA HLA-DPB2 DPPb2. SB] • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • The MHC Region: 1991 WHO Designation Previous Equivalents HLA-A HLA-B HLA-C HLA-E E. HLA-DRB5 DRßIII HLA-DRB6 DRBX.C loci D region HLA-A HLA-B HLA-C HLA-D HLA-DR HLA-DQ HLA-DP [HL.DQlA HLA-DQB1 DQP1.PSFl TAP2 RING1 l.DRBa HLA-DRB7 DRByl HLA-DRB8 DRBW. DR2. 6. HLA-Dl [Ia-like. Dw26 specificities DRB4B DR chain determining DR53 DR P5 chain determining DR5 1 DRB psuedogene on DR1. DR3. MLR-S] [IS' or LA locus] [2nd or FOUR locus] [3rd or AJ locus] LD. et al. Hull [LD locus. Tissue Antigens.DC.B. DR7 and DR9 haplotypes DRB pseudogene on DR4. expressed DP P chain.2 fl exon HLA-DQA1 DQal .DQB3 HLA-DOB DOP HLA-DMA RING6 HLA-DMB RING7 HLA-DNA DZa. Class I associated 6. expressed DP a chain pseudogene i DP P chain pseudogene ABC (ATP binding cassette) transporter PSF2 ABC (ATP binding cassette) transporter Proteasome-related sequence Proteasome-related sequence aAdapted from Bodmer.MB. not expressed DO fl chain DM a chain DM P chain DOa DN a chain DP a chain. HLA-DRB4 DRßIV.. not expressed DQ P-chain related sequence.Y 1 LMP1 RING12 RING10 Molecular characteristics . DRB pseudogene with DR P-like sequences DR3B DR p3 chain determining DR52. not expressed DQ P-chain related sequence.DnB TAP1 RING4. 1992. DR4. DR2 and DRlO haplotypes DRB pseudogene on DR4.• • • • • • • • • HLA Nomenclature The MHC Region: Old Nomenclature MHC Region SD region LD region Locus A Locus B Locus C D Region Previous HLA A. HL-A.4-kB Hind III fragment Class I associated 6.4-kB Hind III fragment Class I pseudogene associated with 5. DR5 etc. DPlA HLA-DPB 1 DPP1 . DR7 and DR9 haplotypes DRB pseudogene DQ a chain.DP1 B HLA-DPA2 DPa2. expressed DQ a-chain related sequence. Dw25. and Dw24. 6. . 12. Class I a-chain Class I a-chain Class I a-chain .DRlB HLA-DRB2 DRßII HLA-DRB3 DRßIII.2-kB Hind III fragment Class I associated 5.0-kB Hind III fragment Class I pseudogene associated with 5.! HLA-DRB9 M4.DQlB HLA-DQA2 DXaDQ2A HLA-DQB2 DXP. expressed DQ fl chain.
2 16.1 11 12 13 14 15 16.1 22.3 22.3 23.2 22.1 25.3 21 q 22.2 23.1 16.2 21.1 12 11.2 22.3 26 27 .3 24 25.2 11.3 21.1 23.1 21.2 25.p 25 24 23 22.
HLA INHERITANCE .
.A recombinant HLA haplotype is formed by a crossover event between homologous chromosomes during meiotic cell division.
.Common serological haplotypes and their possible origins.
and -C. are not expressed on placental trophoblast cells at the fetomaternal interface. Locally produced placental hormones such as steroids and chorionic gonadotrophic hormones are inherently immunosuppressive. -B. the fetal allograft is protected from maternal immunologic assaults through a variety of mechanisms. • Therefore. HLA-A. the classical class I gene products.Pregnancy • During in utero development. T cells would again be ignorant of the trophoblast and fetus . • In addition.
so it may be surprising that MHC may function in the apparently non-immunological process of mate selection. a preference to mate with a MHC-disparate partner may indirectly relate to immune function because it would serve to produce MHC heterozygous progeny with enhanced resistance to invasion by pathogens (heterozygote advantage).or family. Yet.Mating Preference The biological functions of MHC gene products all relate to innate and adaptive immune responses. there is increasing evidence that mating preference may be biased towards a preference for either self. Soluble MHC molecules are present in sweat and urine. Actually. most studies suggest that the most feasible mechanism is olfactory (odor) recognition.HLA-disparate mates. While the means by which the sexes discriminate differences in the MHC gene products of another individual are not clear. .
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