Interpretation of Genetic formulae
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The ppt contains structure of chromosome, Nomenclature of chromosome and how to represent structural or numerical abnormalities in chromosome using genetic formula
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- The methylase and restriction enzyme of a bacterial species together form the restriction-modification system, with the methylase protecting the host DNA.
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Complementation between two non-allelic genes (C and P) are essential for production
of a particular or special phenotype i.e., complementary factor.
Two genes involved in a specific pathway and their functional products are required
for gene expression, then one recessive allelic pair at either allelic pair would result in
the mutant phenotype.
When Dominant alleles are present together, they complement each other to yield
complementary factor resulting in a special phenotype.
They are called complementary genes.
When either of gene loci have homozygous recessive alleles (i.e., genotypes of ccPP,
ccPp, CCpp, Ccpp and ccpp), they produce identical phenotypes and change F2 ratio
to 9:7.
Ti plasmid
The document summarizes key information about Ti plasmids, which are plasmids found in Agrobacterium tumefaciens that cause crown gall disease in plants. The Ti plasmid transfers a segment of DNA called T-DNA into the host plant genome, integrating genes that cause tumor formation. The plasmid has regions for T-DNA, virulence genes needed for transfer, and sometimes opine catabolism genes. Ti plasmids are used to create transgenic plants by replacing the tumor genes with a gene of interest in the T-DNA.
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The chromosome theory of inheritance states that chromosomes contain genes and are responsible for Mendel's principles of segregation and independent assortment during meiosis. Thomas Hunt Morgan's experiments with fruit flies led to the discovery of sex linkage, where genes on the X chromosome show different inheritance patterns between males and females. Nettie Stevens' analysis of beetle karyotypes revealed that females have two X chromosomes while males have one X and one Y chromosome, establishing the sex chromosome system. Morgan then used this information to propose X-linked inheritance for white eye color in fruit flies, providing support for the chromosome theory of inheritance.
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Numerical Solution of Oscillatory Reaction-Diffusion System of $\lambda-omega...
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XRD principle and application
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20101209 dnaseq pevzner
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- 2. • Interpretation of cytogenetic formula with Numerical aberrations in chromosome (Autosome/sex chromosomes) • Structural aberrations in chromosomes & their representation using cytogenetic formulae. A)Deletion (Terminal/Interstitial Deletion) B)Duplication (Direct duplication/Inverted Duplication) C) Inversion (Paracentric/Pericentric Inversion) D)Translocation (Reciprocal Translocation/Robertsonian Translocation) WHAT WE WILL BE LEARNING TODAY ?
- 3. NUMERICAL ABERRATION • IVOLOVING SEX CHROMOSOMES • INVOLVING AUTOSOMES Describe the following cytogenetic abnormality in chromosome number 1) 45, X The given cytogenetic abnormality depicts hypoploidy due to monosomy of sex chromosome X. this condition is called as Turner’s syndrome 2) 47, XXY The above cytogenetic abnormality depicts hyperploidy due to trisomy of sex chromosome and this condition is called as Klinefelter’s syndrome 3) 47, XX, +21 The above genetic formula depicts hyperploidly due to trisomy of 21st chromosome (Autosomal trisomy) in a female. This condition is called as Down’s syndrome 4)47, XY, +18 5) 47, XY, +13 6) 45, XY, -7
- 4. Chromosome Banding and Nomenclature ISCN (International System for Human Cytogenetic Nomenclature) Band names, symbols, abbreviated terms used in description of human chromosome and abnormalities of chromosomes Chromosome banding refers to alternating light and dark regions along the length of a chromosome, produced after staining with a dye.
- 6. TERMINAL DELETION • Long arm/q arm of chromosome 2 is cut at the 2nd band and lost. • 46, XX, del(2) (q21)-Short form • 46,XX, del (2)(pterq21:)- Long form • Del : deletion • 2: chromosome number • q: deletion is on q arm • 21: from 2nd band’s 1st sub-band /interband
- 7. INTERSTITIAL/ INTERNAL DELETION Break and loss followed by rejoining /reunion 46, XY, del(1)(q21q31) 46, XY,del(1)(pterq21::q31qter) :: - indicates break and reunion at the regions 1q21 and 1q31
- 8. DIRECT DUPLICATION • 46,XX, dup(3)(q21q31) • 46, XX, dup(3)(pterq31::q21) • Direct duplication between bands 3q21and 3q31 • Retaining same orientation wrt centromere position
- 9. INVERTED DUPLICATION (dup) 46 XY, dup(2), (q31q21) 46,XY, dup (2), (pterq31::q31q21::q31qter) This means inverted duplication of the segments between 2q21 and 2q31
- 10. PARACENTRIC INVERSION Inversion of region between bands p21 to p31 of ch 19 46, XX, inv(19)(p21p33) 46,XX, inv (19)(pterp33::p21p33::p21qter) Segment of short arm of chromosome 19between bands 19p21 to 19p33 is inverted.
- 11. PERICENTRIC INVERSION Inversion of region between bands p22to q22 of ch 2 46,XY, inv(2)(p22q22) There is pericentric inversion of the segment of chromosme 2 between bands 2p22 to q22
- 12. RECIPROCAL TRANSLOCATION (rcp/t) • There is Mutual exchange of segment between 2 different chromosomes • Can be represented using rcp/t • Exchange of region between bands 2q21 to 2 qter of ch 2 with region between bands 5q31to5qter of ch 5 • 46, XY, t(2;5)(q21;q31) • 46, XY,rcp(2;5)(q21;q31) • Breakage and reunion have occurred at bands 2q21 and 5q31 • 46, XY,t(2;5)(2pter2q21::5q315qter;5q31::2 q212qter)
- 13. ROBERTSONIAN TRANSLOCATION (der/rob) These translocations involve centromeric regions and with both long arms of acrocentric chromosomes (pairs 13,14,15,21,22) There is breakage and reunion at band 15q10and 21q10 of chromosome number 15 and 21 The resulting arranged chromosme has long arm of both chromosomes 45, XX, der(15;21)(q10;q10) 45,XX, rob(15;21)(q10;q10) 45, XX, rob(15;21)(15qter15q10::21q10 21qter)
- 14. • 46, XY, del(5) (p31) • 46,XY, del(6)(q12q33) • 46,XX,dup(2)(q21q26) • 46,XY,dup(3)(q25q22) • 46,XY, inv(3)( q12q25) • 46,XX,inv(1)(p13q26) • 46,XY,t(2;6)(q21;q35) • 45,XX,rcp(2:19)(q31;q12) • 45,XX,rcp(3:16)(q42;q21) • 45,XX,rob (14:21)(q10;q11) • 45,XX,rob(13:22)(q10q10)
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