genetic disorders notes pdf

Most of the datasets will be found in the category of restricted datasets although there are a small number of anonymized datasets. The digital fillable pdf files are g 5 0000002018 00000 n Agenetic disorder is an abnormal condition that a person inherits through genes or chromosomes.Genetic disorders are caused by mutations, or changes in a person’s DNA. • The autosome chromosome pairs are called homologous pair. ���"K+]C���@eYAU�27���]?�����=���a �Up�J�����W��j9�]��$�ָ�/q's���J��(�-I�(�\xi���*8T��|������/y�U@0F����DU����@�-��?&(���:�t��aK���_��"�h��( H�b```f``9������� �� 6P������s�'�D�V�bQ~�"���� �'Yd700�200�c``��� �@p����#��o�u0v5`����YS��hvF�Z �� #�� endstream endobj 50 0 obj 133 endobj 14 0 obj << /Type /Page /Parent 9 0 R /Resources 15 0 R /Contents [ 24 0 R 26 0 R 28 0 R 30 0 R 32 0 R 36 0 R 38 0 R 40 0 R ] /MediaBox [ 0 0 612 792 ] /CropBox [ 0 0 612 792 ] /Rotate 0 >> endobj 15 0 obj << /ProcSet [ /PDF /Text ] /Font << /TT2 19 0 R /TT4 18 0 R /TT5 34 0 R /TT6 22 0 R >> /ExtGState << /GS1 45 0 R >> /ColorSpace << /Cs6 20 0 R >> >> endobj 16 0 obj << /Type /FontDescriptor /Ascent 1000 /CapHeight 734 /Descent -206 /Flags 32 /FontBBox [ -600 -208 1338 1034 ] /FontName /CCMHPE+Tahoma /ItalicAngle 0 /StemV 96 /XHeight 546 /FontFile2 46 0 R >> endobj 17 0 obj << /Type /FontDescriptor /Ascent 891 /CapHeight 0 /Descent -216 /Flags 34 /FontBBox [ -568 -307 2000 1007 ] /FontName /CCMHLD+TimesNewRoman /ItalicAngle 0 /StemV 0 /FontFile2 42 0 R >> endobj 18 0 obj << /Type /Font /Subtype /TrueType /FirstChar 32 /LastChar 32 /Widths [ 250 ] /Encoding /WinAnsiEncoding /BaseFont /CCMHLD+TimesNewRoman /FontDescriptor 17 0 R >> endobj 19 0 obj << /Type /Font /Subtype /TrueType /FirstChar 32 /LastChar 117 /Widths [ 250 0 0 0 0 0 0 0 0 0 0 0 0 0 0 278 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 722 722 0 611 778 0 389 0 0 0 0 0 0 0 0 0 0 667 0 0 0 0 0 0 0 0 0 0 0 0 500 556 444 556 444 333 0 556 278 0 0 278 0 556 500 0 0 444 389 333 556 ] /Encoding /WinAnsiEncoding /BaseFont /CCMHLB+TimesNewRoman,Bold /FontDescriptor 21 0 R >> endobj 20 0 obj [ /ICCBased 44 0 R ] endobj 21 0 obj << /Type /FontDescriptor /Ascent 891 /CapHeight 656 /Descent -216 /Flags 34 /FontBBox [ -558 -307 2000 1026 ] /FontName /CCMHLB+TimesNewRoman,Bold /ItalicAngle 0 /StemV 160 /FontFile2 41 0 R >> endobj 22 0 obj << /Type /Font /Subtype /TrueType /FirstChar 32 /LastChar 150 /Widths [ 313 0 0 0 0 977 674 0 383 383 0 0 303 363 303 382 546 546 546 546 546 546 546 546 0 546 0 0 0 0 0 474 0 600 589 601 678 561 521 667 675 373 417 588 498 771 667 708 551 0 621 557 584 656 597 902 581 576 0 0 0 0 0 0 0 525 553 461 553 526 318 553 558 229 282 498 229 840 558 543 553 553 360 446 334 558 498 742 495 498 444 0 0 0 728 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 211 401 401 0 546 ] /Encoding /WinAnsiEncoding /BaseFont /CCMHPE+Tahoma /FontDescriptor 16 0 R >> endobj 23 0 obj 893 endobj 24 0 obj << /Filter /FlateDecode /Length 23 0 R >> stream The X-linked recessive genes show criss-cross pattern of inheritance. A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. m���Y6Í��g�s�A�L�Ef3B���˿�)\����X���"�F��a�G���s���w�;�%�Has;!Y���Q�W!5������N���B齿�> ���g��S">��[� �8 Genetic Disorders Unit 8 Lesson 6 Genetic Disorders Students will be able to: • Describe the inheritance and 2��(��b���}�o������Pp���?�85����Bͩ��0�����ܹ���#G�s�(cL��+v��\�ݏ�z�Ά�C���N3"͗��2�+ZU�8��P��� �Օ�����D��T�������0��v� ���l���w��@>7��BiHcC�Ԩ�Z�Y�a�е#"�(�m�����{ShIK�L-�B�* ���-ol����K+G*d�h-�;�2�ėt���4��mJ Click here to download the pdf version of "Genetics - Form 4 Biology Notes", and read the full contents of this page Read 27322 times Last modified on Friday, 18 September 2020 06:54 Ask a question related to this topic in the comment section below. • CF is the most common genetic disorder among _____ o ~1 in 2500 white infants in the US are born with CF (4-5 born each day) o It is estimated that 1 in 20 white people is a carrier of the CF allele inheritance using the “Lecture Notes for Sex-Linked Disorders” provided as a supplemental document. %%EOF ���.N�aq�� ��S9`\SW�l����O����� %PDF-1.3 %���� This is one of over 2,200 courses on OCW. To help nursing students to study online we have prepared this complete book as a free PDF. Principles of Genetics 80 BIOLOGY Notes MODULE - 3 Reproduction and Heredity 22 PRINCIPLES OF GENETICS It is a common observation that seeds of mango trees germinate to grow into mango plants, and dogs give birth to puppies only and not into the young ones of any other animal. 0000002915 00000 n n�3ܣ�k�Gݯz=��[=��=�B�0FX'�+������t���G�,�}���/���Hh8�m�W�2p[����AiA��N�#8$X�?�A�KHI�{!7�. This document is highly rated by Class 12 students and has been viewed 8304 times. Autosomal recessive gene; Cause = point mutation (base substitution) in gene for hemoglobin. • A genetic disorder is a disease caused by a mutation in one or a few genes. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in digestive organs. It is strictly a pI0�����. Table of Genetic Disorders Disease Gene/Defect Inheritance Clinical Features Achondroplasia Fibroblast growth factor receptor 3 (FGR3) – constitutively active (gain of function) Autosomal dominant (normal parents can have an affected child due to new mutation, and risk of … They may arise due to spontaneous mutations or may be inherited from the parents. 0000007527 00000 n Inheritable genetic disorders usually occur in the germline cells, whereas in non-inheritable genetic disorders the defects are generally caused by new mutations or due to some changes in the DNA. 1out of every 4,000 children have Cystic fibrosis in the U.S. A human example is cystic fibrosis. 0000003137 00000 n View Notes - Genetic Disorders.pdf from SCIENCE HONORS at Fleming Island High School. 2009 – Helicos Genetic Analysis – 21-28Gbp per run o While costs and speed have gone down dramatically for sequencing, the costs for analysis are still very high Variation and Disease - Everyone has 5-50 significant genetic flaws all diseases have some genetic component (susceptibility) o Down/up regulate expression MIT OpenCourseWare is a free & open publication of material from thousands of MIT courses, covering the entire MIT curriculum.. No enrollment or registration. Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease (National Society of Genetic Counselors' Definition Task Force 2006). In criss-cross inheritance, an X-linked recessive gene is transmitted from P1 male parent (father) to F2 male progeny (grandsons) through its F1 heterozygous females (daughters), which are called carriers) and different F1 and F2 results (ratios) in the reciprocal crosses. Learn from a list of genetic diseases that are caused by abnormalities in an individual's genome. Find materials for this course in the pages linked along the left. USMLE Step 1 Lecture Notes 2020: Biochemistry and Medical Genetics PDF Free Download. What is a genetic disease or disorder? • Genes are found on chromosomes. BIG BUNDLE Genetic Disorders and DNA Mutations with Chromosomal Abnormalities is an excellent resource to use in a traditional, hybrid, or distance learning environment. Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease (National Society of Genetic Counselors' Definition Task Force 2006). Genetic Disorders Unit 8 Lesson 6 Genetic Disorders Students will be able to: • Describe the inheritance and A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality.Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. 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