Disease-associated alterations (mutation/deletion/duplication/insertion)

Genetics + genomics > Molecular genetics > Studies of DNA > Studies of DNA (as a sequence) > Disease-associated alterations (mutation/deletion/duplication/insertion)
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Molecular genetic testing is now available for more than 600 single gene disorders and the information from such a test can be crucial in the genetic counselling process. Is a molecular test the most appropriate option? Before ordering such a test the counsellor must decide whether the test will ...
Cancer is always a genetic disease, as it results from genetic defects in cells. In the majority of cases, the accumulation of genetic changes in a tissue is random, and the tumour is termed sporadic. In a fraction of cases, however, all the cells of the body carry an inborn genetic defect, which in ...
Traditional human inheritance follows the same laws Gregor Mendel described and analysed for plants. In humans, both dominant and recessive genes play a role in causing disease and, moreover, our sexual species suffers from disorders that affect differentially males and females known as X linked di ...
SYNDROMY A ONEMOCN─ÜN├Ź Z MUTAC├Ź TYPU ZMNO┼ŻEN├Ź TRINUKLEOTID┼« Auto┼Öi: Seemanov├í E. ─îl├ínek: ─îas. L├ęk. ─Źes., 2002, , pp. 503-507. Zdroj: ─îasopis l├ęka┼Ö┼» ─Źesk├Żch ─î├şslo: 16 / 2002 Nov├Ż typ mutace ÔÇô expanze DNA trinukleotidov├Żch opakov├ín├ş ÔÇô byl objeven p┼Öed 10 lety a d ...
Zv├Ż┼íen├ę riziko malignit u heterozygot┼» v rodin├ích pacient┼» s Nijmegen breakage syndromem Auto┼Öi: Seemanov├í E., 1Jarol├şm P., 2Seeman P., 3Varon R., 3Sperling K. Auto┼Öi - p┼»sobi┼ít─Ť: Odd─Ťlen├ş klinick├ę genetiky, ├Üstav biologie a l├ęka┼Ösk├ę genetiky 2. LF UK, Praha 1├Üstav hematolog ...