0000002018 00000 n 1. 0000003706 00000 n �a���52V7��9���>)̬ 0000003137 00000 n xref 0000003727 00000 n trailer << /Size 51 /Info 10 0 R /Root 13 0 R /Prev 78016 /ID[<623a9153fd254c0640c0f004f28344ba><0d9c6cc88394f557b29421b49410d949>] >> startxref 0 %%EOF 13 0 obj << /Type /Catalog /Pages 9 0 R /Metadata 11 0 R /PageLabels 8 0 R >> endobj 49 0 obj << /S 51 /L 146 /Filter /FlateDecode /Length 50 0 R >> stream %PDF-1.3 %���� The tendency of offsprings to inherit Genetic Disorders - Chromosome Disorders NOTES.pdf ... Loading… chromosome abnormalities occur in about 0.5% in neonates single-gene disorders occur in about 1% of in neonates A chromosome abnormality is present in 40-50% of all Genetic Disorders Unit 8 Lesson 6 Genetic Disorders Students will be able to: • Describe the inheritance and 0000027727 00000 n • The traits are expressed by genes, which are small sections of DNA that are coded for specific traits. Carrier frequency is the number that describes how many people in a population are carriers (have one altered copy of a gene and one normal copy of the same ... are carriers (have one altered copy of a gene and one normal copy of the same genes) for a genetic disorder. Genetic counseling does not include physical exams or diagnosis of genetic conditions. ���"K+]C���@eYAU�27���]?�����=���a �Up�J�����W��j9�]��$�ָ�/q's���J��(�-I�(�\xi���*8T��|������/y�U@0F����DU����@�-��?&(���:�t��aK���_��"�h��( What is DNA? 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. 0000001840 00000 n 0000002915 00000 n inheritance using the “Lecture Notes for Sex-Linked Disorders” provided as a supplemental document. For instance, cancer may either be caused by an inherited genetic condition, or by a new mutation caused by the environmental causes or otherwise. Genetic diseases and disorders are the result of anomalies in a gene or an entire part of the chromosome of an individual. NOTES & TIPS: Print the alleles for each disorder on a different color. 0000001669 00000 n 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 ��Y�&5׋PGYj�r�Q֜9�� v[�̽�@-�)�a �*������ѝ��jc��j���“��p Ojz[�)�Ƶy���וsכ�un���#'D���bG&\א'f=#�?�LH�tR57����ڼc���B�ʤ���)�ॱ�@����{L�o�P�tdµ�:��U������Fk&����u/��Q.��9P�k���`���O:��)�1��?�5g���M�^�Jnm%ɹu$��L�I��z��4��L�'��s�����Kn'Z�D�( Genetics The field of biology that investigates how characteristics are transmitted from parents to offspring is called genetics. Mucus builds up and can get infected in the lungs because the CFTR protein does not function correctly. 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. Genetics, DNA, and Heredity The Basics. • The autosome chromosome pairs are called homologous pair. inheritance using the “Lecture Notes for Sex-Linked Disorders” provided as a supplemental document. 0000058679 00000 n It is strictly a • One pair is called sex chromosomes Male: XY Female: XX • Other 22 pairs of homologous chromosomes are called autosomes. 0000008429 00000 n 0000036144 00000 n single-gene disorders, chromosomal disorders, complex disorders. What is a genetic disease or disorder? Humans give birth to human beings. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in digestive organs. There are four main types of genetic inheritance, single, multifactorial, chromosome abnormalities, and mitochondrial inheritance. Goal 3 - Genetic Disorders Pages 312, 314, 323, 327, 329 Sickle Cell Anemia. Every human cell contains the 23 pair of chromosomes. endstream endobj 493 0 obj<> endobj 494 0 obj<> endobj 495 0 obj<> endobj 496 0 obj<> endobj 497 0 obj[/ICCBased 500 0 R] endobj 498 0 obj<> endobj 499 0 obj<>stream The X-linked recessive genes show criss-cross pattern of inheritance. 7.L.2.3 – Genetic Diseases, Disorders, & Mutations Notes Objective: 7.L.2.3 Explain the impact of the environment and lifestyle choices on biological inheritance (to include common genetic diseases) and survival. 484 0 obj <> endobj The current article provides a list of such genetic diseases and disorders. 0000009421 00000 n CH 4: Genes and Genetic Diseases DNA = Genetic Code - Provides code for all body proteins Proteins = chain of %PDF-1.3 %���� Incidence/prevalence of some genetic conditions 0.3 % of liveborns are aneuploid Down syndrome = Trisomy 21 (1/600-700 live births) Sex chromosome aneuploidies 47 XXX, 47 XXY, 47 XO Rare translocations, large deletions, insertions, etc Alcorp.com Hassold and Hunt Nature Review Genetics … Few genetic disorders are controlled by dominant alleles. 0000004698 00000 n • Humans have two sets of 23 chromosomes— You can watch a video about cystic fibrosis and other USMLE Step 1 Lecture Notes 2020: Biochemistry and Medical Genetics PDF Free Download. 1out of every 4,000 children have Cystic fibrosis in the U.S. Multiple alleles Multiple factor hypothesis you can watch a video about cystic fibrosis and other What is a disease in. 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