كروموسومسبعة (بشري)
الكروموسوم 7، هوواحد من 23 زوج من الكروموسومات البشرية. عادة ما يمتلك البشر زوجان من هذا الكروموسوم. يحتوي الكروموسومسبعة على 158 مليون زوج قاعدي (مادة بناء الدنا) ويمثل حوالي 5.5% من إجمالي الدنا في الخلايا.
نظراً لاختلاف المناهج التي يستخدمها الباحثون في التنبؤ بعدد الجينات في جميع كروموسوم، هناك تباين في أعداد الجينات المقدرة. من الأرجح حتى الكروموسومسبعة يحتوي على 1.000-1.400 جين. ويحتوي أيضاً على مجموعة العلبة المثلية الجينية.
الأمراض والاضطرابات
القائمة التالية لبعض الأمراض المرتبطة بالجينات الموجودة على الكروموسوم 7:
- argininosuccinic aciduria
- cerebral cavernous malformation
- Charcot–Marie–Tooth disease
- Charcot–Marie–Tooth disease, type 2
- CHARGE syndrome
- citrullinemia
- congenital bilateral absence of vas deferens
- cystic fibrosis
- distal spinal muscular atrophy, type V
- Ehlers–Danlos syndrome
- Ehlers–Danlos syndrome, arthrochalasia type
- Ehlers–Danlos syndrome, classical type
- hemochromatosis
- hemochromatosis, type 3
- hereditary nonpolyposis colorectal cancer
- lissencephaly
- maple syrup urine disease
- maturity onset diabetes of the young type 3
- mucopolysaccharidosis type VII or Sly syndrome
- myelodysplastic syndrome
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- تكون العظم الناقص
- تكون العظم الناقص النمط 1
- تكون العظم الناقص النمط 3
- تكون العظم الناقص النمط 2
- تكون العظم الناقص النمط 4
- p47-phox-deficient chronic granulomatous disease
- متلازمة پندرد
- متلازمة رومانو-وارد
- متلازمة شواتشمان-دياموند
- انفصم الشخصية
- عمى الألوان
- متلازمة وليامز
الاضطرابات الكروموسومية
The following conditions are caused by changes in the structure or number of copies of chromosome 7:
- Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.
While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.
- Other changes in the number or structure of chromosomeسبعة can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosomeسبعة in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosomeسبعة is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.
المصادر
- Gilbert F (2002). "Chromosome 7". Genet Test. 6 (2): 141–61. doi:10.1089/10906570260199429. PMID 12215256.
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- Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA (2005). "Supernumerary ring chromosomeسبعة mosaicism: case report, investigation of the gene content, and delineation of the phenotype". Am J Med Genet A. 132 (1): 93–100. doi:10.1002/ajmg.a.30408. PMID 15580634.CS1 maint: multiple names: authors list (link)
- Rodriguez L, Lopez F, Paisan L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martinez-Frias ML (2002). "Pure partial trisomy 7q: two new patients and review". Am J Med Genet. 113 (2): 218–24. doi:10.1002/ajmg.10719. PMID 12407716.CS1 maint: multiple names: authors list (link)
- Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.CS1 maint: multiple names: authors list (link)
- Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS (2002). "De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature". Clin Genet. 61 (3): 202–6. doi:10.1034/j.1399-0004.2002.610306.x. PMID 12000362.CS1 maint: multiple names: authors list (link)
