الوراثة والإنسان

174 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن واﻹﻓﺮاز. ﺗﻠﻌﺐ اﻷﻧﺰﻢﻼةﳉﻻ اﻷﻳﻀﻴﺔ. اﺳﺘﻨﺴﺎخTranscriptionTranscriptionTranscriptionTranscriptionTranscription ﻋﻤﻠﻴﺔ ﺗﺴﺘﻌﻤﻞ ﻓﻴﻬﺎ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت اﻟﻮراﺛﻴﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻮﺟﻮدة ﺑﺼﻮرة ﺳﻼﺳﻞ ﻗﺎﻋﺪﻳﺔ ﻓﻲ اﳊﺎﻣﺾ اﻟﻨﻮوي اﻟﺪﻳﺆﻛﺴﻲ راﻳﺒﻮزي ﻟﺘﻜﻮﻳﻦ ﺳﻼﺳﻞ ﻗﺎﻋﺪﻳﺔ ﻣﺘﻤﻤﺔ ﻓﻲ اﳊﺎﻣﺾ اﻟﻨﻮوي اﻟﺮاﻳﺒﻮزي. ﺑﻮﻳﻀﺔOvumOvumOvumOvumOvum ﺧﻠﻴﺔ ﺟﻨﺴﻴﺔ أﻧﺜﻮﻳﺔ ﻧﺎﺿﺠﺔ ﺑﻮﻳﻀﺔ ﻣﺨﺼﺒﺔZygoteZygoteZygoteZygoteZygote ﺧﻠﻴﺔ ﺗﺘﻜﻮن ﻣﻦ اﲢﺎد ﺧﻠﻴﺘﻢﻼةﳉﻻﻵﺨﺬﳋ ﺟﻨﺴﻴـﺘـﻢﻼةﳉﻻﻵﺨﺬﳋ ﻧـﺎﺿـﺠـﺘـﻢﻼةﳉﻻﻵﺨﺬﳋ )ﺟـﺎﻣـﻴـﺘـﻢﻼةﳉﻻﻵﺨﺬﳋ( ﺧـﻼل ﻋﻤﻠﻴﺔ اﻟﺘﻜﺎﺛﺮ اﳉﻨﺴﻲ. ﺑﺮوﺗﺿن-صﻈفﺻبﻐ اﳉﻨﺿن-صﻈفﺻبﻐ اﻷﻟﻔﻲAlpha-fetoproteinAlpha-fetoproteinAlpha-fetoproteinAlpha-fetoproteinAlpha-fetoprotein ﲢﻮلTransformationTransformationTransformationTransformationTransformation اﻧﺘﻘﺎل ﺟﻢﻼةﳉﻻﻵﺨﺬﳋ أو أﻛﺜﺮ ﻣﻦ ﺧﻠﻴﺔ ﺑﻜﺘﻴﺮﻳﺔ ﻣﺘﻬﺸﻤﺔ إﻟﻰ أﺧـﺮى ﺣـﻴـﺔ ﻧـﺘـﻴـﺠـﺔ اﺣﺘﻔﺎظ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺎدة اﻟﻮراﺛﻴﺔ ﻋﻠﻰ ﻓﻌﺎﻟﻴﺘﻬﺎ ﺑﻌﺪ ﻣﻘﺘﻞ اﳋﻠﻴﺔ وﺗﻬﺸﻤﻬﺎ. ﺗﺮﺟﻤﺔTranslationTranslationTranslationTranslationTranslation ﻋﻤﻠﻴﺔ ﲢﺪث ﻓﻲ اﻟﺮاﻳﺒﻮزوﻣﺎت ﺣﻴﺚ ﺗﺘﺮﺟﻢ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت اﻟﻮراﺛﻴﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺮﺳﻠﺔ ﻣﻦ اﳊﺎﻣﺾ اﻟﻨﻮوي اﻟﺪﻳﺆﻛﺴﻲ راﻳﺒﻮزي إﻟﻰ ﺗﺴﻠﺴﻞ ﻣـﻌـﻢﻼةﳉﻻﻵﺨﺬﳋ ﻣـﻦ اﻷﺣـﻤـﺎض اﻷﻣﻴﻨﻴﺔ ﻟﺼﻨﺎﻋﺔ اﻟﺒﺮوﺗﻢﻼةﳉﻻﻵﺨﺬﳋ. ﺗﺮﻛﻴﺐ ﺟﻴﻨﻲGenotypeGenotypeGenotypeGenotypeGenotype ﺗﺮﻛﻴﺐ وراﺛﻲ )ﺻﻮرة وراﺛﻴﺔ( ﻳﻌﺒﺮ ﻋﻦ ﻧﻮﻋﻴﺔ اﳉﻴﻨﺎت ﻓﻲ ﻛﺎﺋﻦ ﺣﻲ ﻣﺜﻞ )ق ق( أو )ق ق(. ﻳﺘﺸﺎﺑﻪ ﻣﻈﻬﺮ اﻟﻜﺎﺋﻨﺎت ذات اﻟﺘﺮﻛﻴﺐ اﳉﻴﻨﻲ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺘﺸﺎﺑﻪ. ﺗﺸﻮﻫﺎت ﻛﺮوﻣﻮﺳﻮﻣﻴﺔChromosomal abnormalitiesChromosomal abnormalitiesChromosomal abnormalitiesChromosomal abnormalitiesChromosomal abnormalities

175 ﻗﺎﺋﻤﺔ ا ﺗﺸﻮﻫﺎت وﻻدﻳﺔBirth defectsBirth defectsBirth defectsBirth defectsBirth defects ﺗﻀﺎﻋﻒ ﻛﺮ وﻣﻮﺳﻮﻣﻲDuplicationDuplicationDuplicationDuplicationDuplication ﺗﻐﻴﺮ ﻓﻲ ﺗﺮﻛﻴﺐ اﻟﻜﺮوﻣﻮﺳﻮم. وﻓﻴﻪ ﺗﺘﺼﻞ ﻗﻄﻌﺔ ﻛﺮوﻣﻮﺳﻮﻣﻴﺔ ﺑﻜﺮوﻣﻮﺳﻮم ﻢﻼةﳉإﻟﻤﺠﻏﳋﺎﺛﻞ ﻓﻴﺆدي إﻟﻰ ﺗﻀﺎﻋﻒ ﻣﺠﻤﻮﻋﺔ ﻣﻦ اﳉﻴﻨﺎتﻼس اﻟﺘﺴﻠﺴﻞ أ ب ت ث ج إﻟﻰ أ ب ت ث ت ث ج. ﺗﻐﺎﻳﺮVariationVariationVariationVariationVariation ﺣﺪوث اﻻﺧﺘﻼﻓﺎت ﺑﻢﻼةﳉﻻﻵﺨﺬﳋ أﻓﺮاد اﻟﻨﻮع اﻟﻮاﺣﺪ ﻣﻦ اﻟﻜﺎﺋﻨﺎت اﳊﻴﺔ ﺗﻐﺎﻳﺮ ﻣﺴﺘﻤﺮContinuous variationContinuous variationContinuous variationContinuous variationContinuous variation ﺗﻜﺎﺛﺮ ﺧﻠﻮي cellular reproductioncellular reproductioncellular reproductioncellular reproductioncellular reproduction ﺗﻠﻘﻴﺢ اﺻﻄﻨﺎﻋﻲ Artificial inseminationArtificial inseminationArtificial inseminationArtificial inseminationArtificial insemination ﺗﻬﺠﺿن-صﻈفﺻبﻐ HybridizationHybridizationHybridizationHybridizationHybridization ﺗﺰاوﺟﺎن ﺑﻢﻼةﳉﻻﻵﺨﺬﳋ أﻓﺮاد اﻟﻨﻮع أو اﻟﺴﻼﻟﺔ أو اﻟﻌﺮق اﳊﻴﻮاﻧﻲ أو اﻟﻨﺒﺎﺗﻲ ﻟﻐﺮض ﺗﻜﻮﻳﻦ اﻟﻬﺠﻢﻼةﳉﻻﻵﺨﺬﳋ. ﺗﻮزﻳﻊ ﻣﻌﺘﺪل Normal distributionNormal distributionNormal distributionNormal distributionNormal distribution ﻣﻀﻠﻊ ﺗﻜﺮاري ﻳﺄﺧﺬ ﺷﻜﻼ ﻣﺴﺘﻤﺮا ﻋﻠﻰ ﻫﻴﺌﺔ ﻣﻨﺤﻨﻰ ﻣﺘﺼﻞ ﻧـﺎﻗـﻮﺳـﻲ اﻟﺸﻜﻞ وﻣﺘﻤﺎﺛﻞ ﻢﻼةﳉﻻ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺘﻮﺳﻂ اﳊﺴﺎﺑﻲ. ﺗﺘﻮزع ﻣﻌﻈﻢ اﻟﺼﻔﺎت اﻟﻜﻤﻴﺔ اﻟﻮراﺛﻴﺔ ﺗﻮزﻳﻌﺎ ﻣﻌﺘﺪﻻ. ﺗﻮاﺋﻢ ﻏﻴﺮ ﻣﺘﺸﺎﺑﻬﺔ أو أﺧﻮﻳﺔNon-identical or fraternal twinsNon-identical or fraternal twinsNon-identical or fraternal twinsNon-identical or fraternal twinsNon-identical or fraternal twins ﺗﻨﺸﺄ ﻣﻦ ﺑﻮﻳﻀﺘﻢﻼةﳉﻻﻵﺨﺬﳋ ﺗﻨﻄﻠﻘﺎن ﺧﻼل ﻧﻔﺲ دورة اﻟﻄﻤﺚ ﺗﺘﻠﻘﺤﺎن ﻣﻦ ﻗـﺒـﻞ ﺣﻴﻤﻨﻢﻼةﳉﻻﻵﺨﺬﳋ ﻛﻞ ﻋﻠﻰ ﺣﺪه. ودرﺟﺔ اﻻﺧﺘﻼﻓﺎت ﺑﻢﻼةﳉﻻﻵﺨﺬﳋ زوج اﻟﺘﻮاﺋﻢ ﻏﻴﺮ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋـﺘـﺸـﺎﺑـﻬـﺔ ﻣﺜﻴﻠﺔ ﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺎ ﺑﻢﻼةﳉﻻﻵﺨﺬﳋ اﻷﺧﻮة اﻻﻋﺘﻴﺎدﻳﻢﻼةﳉﻻﻵﺨﺬﳋ. ﺗﻮاﺋﻢ ﻣﺘﺸﺎﺑﻬﺔ Identical twinsIdentical twinsIdentical twinsIdentical twinsIdentical twins ﺗﻨﺸﺄ ﻣﻦ ﺑﻮﻳﻀﺔ ﻣﺨﺼﺒﺔ واﺣﺪة ﺗﻨﻘﺴﻢ إﻟﻰ ﺟﻨﻴﻨﻢﻼةﳉﻻﻵﺨﺬﳋ ﺧﻼل أدوار اﻟﻨـﻤـﻮ اﻷوﻟﻴﺔ وﺑﺎﻟﺘﺤﺪﻳﺪ ﺧﻼل اﻷرﺑﻌﺔ ﻋﺸﺮ ﻳﻮﻣﺎ ﺑﻌﺪ اﻹﺧﺼﺎب. ﺗﻜﻮن ﻣﺘﺸﺎﺑﻬﺔ

176 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن اﳉﻨﺲ واﻟﺘﺮﻛﻴﺐ اﻟﻮراﺛﻲ. ﺛﺎﻻﺳﻴﻤﻴﺔ ﺧﻄﻴﺮةThalassaemia majorThalassaemia majorThalassaemia majorThalassaemia majorThalassaemia major ﺛﺎﻻﺳﻴﻤﻴﺔ ﻏﻴﺮ ﺧﻄﻴﺮة Thalassaemia minorThalassaemia minorThalassaemia minorThalassaemia minorThalassaemia minor ﺟﺎﻣﻴﺖ GameteGameteGameteGameteGamete ﺧﻠﻴﺔ ﺗﻜﺎﺛﺮﻳﺔ ﻧﺎﺿﺠﺔ ذﻛﺮﻳﺔ أو أﻧﺜﻮﻳﺔ )ﺣﻴﻤﻦ أو ﺑﻮﻳﻀﺔ ﺟﺪول ﺗﻜﺮاري HistogramHistogramHistogramHistogramHistogram ﺟﻨﺿن-صﻈفﺻبﻐ Embryo,foetusEmbryo,foetusEmbryo,foetusEmbryo,foetusEmbryo,foetus ﺟﺿن-صﻈفﺻبﻐ GeneGeneGeneGeneGene وﺣﺪة اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺎدة اﻟﻮراﺛﻴﺔ. وﻫﻮ ﺟﺰء اﳊﺎﻣـﺾ اﻟـﻨـﻮوي اﻟـﺪﻳـﺆﻛـﺴـﻲ راﻳـﺒـﻮزي اﻟﺬي ﻳﻨﻘﻞ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت ﻟﺘﺤﺪﻳﺪ ﺻﻨﺎﻋﺔ ﺑﺮوﺗﻢﻼةﳉﻻﻵﺨﺬﳋ ﻣﻌﻢﻼةﳉﻻﻵﺨﺬﳋ. ﻟـﻪ ﻣـﻮﻗـﻊ ﻣـﺤـﺪد ﻋـﻠـﻰ اﻟﻜﺮوﻣﻮﺳﻮم. اﳊﺎﻣﺾ اﻟﻨﻮوي اﻟﺪﻳﺆﻛﺴﻲ راﻳﺒﻮزي )دﻧﺎ( Deoxyribonucleic acid (DNA)Deoxyribonucleic acid (DNA)Deoxyribonucleic acid (DNA)Deoxyribonucleic acid (DNA)Deoxyribonucleic acid (DNA) ﺣﺎﻣﺾ ﻧﻮوي ﻳﺤﺘﻮي ﻋﻠﻰ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت اﻟﻮراﺛﻴﺔ ﻟﻠﺨﻠﻴﺔ. ﻳـﻮﺟـﺪ ﻋـﻠـﻰ ﻧـﺤـﻮ ﻣﺘﻤﻴﺰ ﻓﻲ اﻟﻜﺮوﻣﻮﺳﻮﻣﺎت وﻳﺒﻘـﻰ ﻓـﻲ اﻟـﻨـﻮاة ﻛـﻤـﺴـﺘـﻮدع داﺋـﻢ ﻟـﻠـﻤـﻌـﻠـﻮﻣـﺎت وﻳﺘﻀﺎﻋﻒ وﻳﺘﻮزع ﺑﺪﻗﺔ ﻋﻨﺪ ﻛﻞ اﻧﻘﺴﺎم ﺧﻠﻮي. ﻣﻮاد ﺑﻨﺎﺋـﻪ اﻷﺳـﺎﺳـﻴـﺔ ﻫـﻲ ﺳﻜﺮ دﻳﺆﻛﺴﻲ راﻳﺒﻮزي وﺣﺎﻣﺾ اﻟﻔﻮﺳﻔﻮرﻳﻚ وﻗﻮاﻋﺪ ﻧﻴﺘﺮوﺟﻴﻨﻴﺔ. اﳊﺎﻣﺾ اﻟﻨﻮوي اﻟﺮاﻳﺒﻮزي )رﻧﺎ( Ribonucleic acid(RNA)Ribonucleic acid(RNA)Ribonucleic acid(RNA)Ribonucleic acid(RNA)Ribonucleic acid(RNA) ﺣﺎﻣﺾ ﻧﻮوي ﻳﺨﺘﻠﻒ ﻋﻦ دﻧﺎ ﻓﻲ اﻟـﺴـﻜـﺮ اﻟـﺮاﻳـﺒـﻮزي وإﺣـﺪى اﻟـﻘـﻮاﻋـﺪ اﻟﻨﻴﺘﺮوﺟﻴﻨﻴﺔ. ﻫﻨﺎﻟﻚ ﺛﻼﺛﺔ أﻧﻮاع وﻇﻴﻔـﻴـﺔ ﻣـﻦ ﻫـﺬا اﳊـﺎﻣـﺾ ﻓـﻲ اﳋـﻼﻳـﺎ ﻫﻲ: رﻧﺎ اﻟﺮاﻳﺒﻮزي ورﻧﺎ اﻟﺮﺳﻮل ورﻧﺎ اﻟﻨﺎﻗﻞ. ﻳﺴﺎﻫﻢ اﻷول ﻓﻲ ﺑﻨﺎء ﻣﺼﺎﻧﻊ اﻟﺘﺮﻛﻴﺐ اﻟﺒﺮوﺗﻴﻨﻲ ﻓﻲ اﳋﻠﻴﺔﻼس ﺑﺪاﺧﻞ اﻟﻨﻮاة إﻟﻰ ﻣﺼﺎﻧﻊ اﻟﺘﺮﻛﻴﺐ اﻟﺒﺮوﺗﻴﻨﻲ ﻓﻲ اﻟﺴﻴﺘﻮﺑﻼزم. أﻣﺎ رﻧﺎ اﻟﻨﺎﻗﻞ

177 ﻗﺎﺋﻤﺔ ا ﻓﻴﻘﻮم ﺑﻨﻘﻞ اﳊﻮاﻣﺾ اﻷﻣﻴﻨﻴﺔ إﻟﻰ ﻣﺼﺎﻧﻊ اﻟﺘﺮﻛﻴﺐ اﻟﺒﺮوﺗﻴﻨﻲ. ﺣﺎﻣﺾ أﻣﻴﻨﻲ Amino acidAmino acidAmino acidAmino acidAmino acid ﻛﺘﻠﺔ اﻟﺒﻨﺎء اﻟﺒﺮوﺗﻴﻨﻲ اﻷﺳﺎﺳﻴﺔ. ﻫﻨﺎﻟﻚ ﻋﺸﺮون ﺣﺎﻣﻀﺎ أﻣﻴﻨﻴﺎ ﻣﺨﺘﻠﻔﺎ ﻓﻲ اﻟﺒﺮوﺗﻴﻨﺎت وﻛﻞ ﻣﻨﻬﺎ ﻟﻪ ﺗﺮﻛﻴﺐ ﻋﺎم. ﺣﺬف DeletionDeletionDeletionDeletionDeletion ﻓﻘﺪان ﻗﻄﻌﺔ ﻣﻦ اﻟﻜﺮوﻣﻮﺳﻮم ﺗﺘﻀﻤﻦ ﺟﻴﻨﺎ أو أﻛﺜﺮ ﺣﻴﻤﻦ SpermSpermSpermSpermSperm ﺧﻠﻴﺔ ﺟﻨﺴﻴﺔ ذﻛﺮﻳﺔ ﻧﺎﺿﺠﺔ ذوات اﻟﻨﻮى اﻟﺒﺪاﺋﻴﺔ ProkaryotesProkaryotesProkaryotesProkaryotesProkaryotes ﻛﺎﺋﻨﺎت ﺑﺴﻴﻄﺔ أﺣﺎدﻳﺔ اﳋﻠﻴﺔ ﻣﺜﺎل اﻟﺒﻜﺘﻴﺮﻳﺎ واﻟﻄﺤﺎﻟﺐ اﻟﺰرﻗﺎء اﻟﻤﺨﻀﺮةﻼس اﻟﺘﻲ ﻻ ﲢﺘﻮي ﻋـﻠـﻰ أﻏـﺸـﻴـﺔ ﻧـﻮوﻳـﺔﻼس ﻛﺎﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻴﺘﻮﻛﻮﻧﺪرﻳﺎ واﻟﻜﻠﻮروﺑﻼﺳﺖ. ذوات اﻟﻨﻮى اﳊﻘﻴﻘﻴﺔ EukaryotesEukaryotesEukaryotesEukaryotesEukaryotes ﺧﻼﻳﺎ أو ﻛﺎﺋﻨﺎت ﲢﺘﻮي ﻋﻠﻰ ﻧﻮاة ﺣﻘﻴﻘﻴﺔ ﻣﺤﺎﻃﺔ ﺑـﻐـﺸـﺎء ﻧـﻮوي وﻋـﻠـﻰ ﻋﻀﻴﺎت ﻣﺤﺎﻃﺔ ﺑﺄﻏﺸﻴﺔ ﻛﺎﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻴﺘﻮﻛﻮﻧﺪرﻳﺎت وﻋﻠﻰ ﻛﺮوﻣﻮﺳﻮﻣﺎت ﻣﺘﻤﻴﺰة. ﺗﺸﻤﻞ اﳋﻼﻳﺎ اﳊﻘﻴﻘﻴﺔ ﻣﻌﻈﻢ اﻟﻜﺎﺋﻨﺎت ﻋﺪا اﻟﻄﺤﺎﻟﺐ اﻟﺰرﻗﺎء اﻟﻤﺨﻀﺮة واﻟﺒﻜﺘﺮﻳﺎ. ﺧﻠﻴﺔ CellCellCellCellCell ﻛﺘﻠﺔ ﺑﺮوﺗﻮﺑﻼزﻣﻴﺔ ﻣﺤﺎﻃﺔ ﺑﻐﺸﺎء وﲢﺘﻮي ﻋﻠﻰ ﻧﻮاة. وﻫﻲ ﺟﻬﺎز ﻣﺘﻜﺎﻣﻞ وﻣﺘﻐﻴﺮ ﺑﺎﺳﺘﻤﺮارﻼس ﺗﺒﻠﻎ ﺑﻀﻊ ﺑﻮﺻﺎت ﻓﻲ ﻗﻄﺮﻫﺎ إﻟﻰ اﻟﺒﻜﺘﺮﻳﺎ اﻟﺪﻗﻴﻘﺔ اﻟﺘﻲ ﺗﺒﻠﻎ أﺑﻌﺎدﻫﺎ ﺣﻮاﻟﻲ ﻣﻠﻢ.٠٠٠٠١/١ ﺧﻠﻴﺔ دم ﺣﻤﺮاء Red blood cellRed blood cellRed blood cellRed blood cellRed blood cell ﻋﺒﺎرة ﻋﻦ ﺧﻠﻴﺔ ﻓﺎﻗﺪة اﻟﻨﻮاة ﻓﻲ اﻟﻠﺒـﺎﺋـﻦ ﻋـﻤـﻮﻣـﺎ )ﻋـﺪا اﳉـﻤـﻞ( ﺑـﻴـﻨـﻤـﺎ ﲢﺘﻮي ﻋﻠﻰ ﻧﻮاة ﻓﻲ اﻟﻄﻴﻮر واﻟﺰواﺣﻒ واﻟﺒﺮﻣﺎﺋﻴﺎت.

178 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن ﺧﻠﻴﺔ دم ﺷﺒﻜﻴﺔ ReticnlocyteReticnlocyteReticnlocyteReticnlocyteReticnlocyte ﺧﻠﻴﺔ دم ﺣﻤﺮاء ﺑﻄﻮر اﻟﻨﻀﻮج داﺧﻞ ﻧﺨﺎع اﻟﻌﻈﺎم ﺧﻨﺜﻰ HermaphroditeHermaphroditeHermaphroditeHermaphroditeHermaphrodite ﺧﻨﻮﺛﺔ ﻛﺎذﺑﺔ Pseudo-hermaphroditismPseudo-hermaphroditismPseudo-hermaphroditismPseudo-hermaphroditismPseudo-hermaphroditism ذﻛﺎء IntelligenceIntelligenceIntelligenceIntelligenceIntelligence ﻫﻮ إﺟﺮاء ﻟﺘﺤﻠﻴﻞ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت ﺑﺸﺘﻰ أﻧﻮاﻋﻬﺎ وﺗﻮﻟﻴﺪ ﻣﻌﻠﻮﻣﺎت ﺟﺪﻳﺪة ﻣﻨﻬﺎﻼس وﻻ ﻳﻈﻬﺮ إﻻ ﻋﻦ ﻃﺮﻳﻖ ﺗﺒﺎدل اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت ﻣﻊ اﻟﺒﻴﺌﺔ. وﻫﻮ وﻇﻴﻔﺔ وﻟﻴﺲ ﻗﺎﺑﻠﻴﺔ أو ﻗﺪرة ﻣﺘﻤﻴﺰةﻼس ﻳﺘﻀﻤﻨﻬﺎ ﺑﻨﺎء اﻟﻌﻘﻞ. ذوات اﻟﻨﻮى اﻟﺒﺪاﺋﻴﺔ ذوات اﻟﻨﻮى اﳊﻘﻴﻘﻴﺔ راﻳﺒﻮزوم RibosomeRibosomeRibosomeRibosomeRibosome ﻣﻔﺮد راﻳﺒﻮزوﻣﺎت وﻫﻲ دﻗﺎﺋﻖ ﺻﻐﻴﺮة وﻣﺘﻌﺪدة ﻣﺘﻜﻮﻧﺔ ﻣﻦ ﺣﺎﻣـﺾ رﻧـﺎ وﺑﺮوﺗﻢﻼةﳉﻻﻵﺨﺬﳋﻼس زواج اﻷﻗﺎربConsanguinity ﺳﺒﻜﺘﺮ وﻓﻮﺗﻮﻣﻴﺘﺮ SpectrophotometerSpectrophotometerSpectrophotometerSpectrophotometerSpectrophotometer ﺟﻬﺎز ﻟﻘﻴﺎس ﻣﻌﺎﻣﻞ اﻧﻌﻜﺎس اﻟﻠﻮن ﺳﺎﻳﺘﻮﺑﻼزم )ﺟﺒﻠﺔ( cytoplasmcytoplasmcytoplasmcytoplasmcytoplasm ﺑﺮوﺗﻮﺑﻼزم اﳋﻠﻴﺔ اﻟﺬي ﻳﺤﻴﻂ ﺑﺎﻟﻨﻮاة وﻳﺤﺘﻮي ﻋﻠﻰ اﻟﻌﻀﻴﺎت اﳋﻠﻮﻳـﺔ ﻛﺎﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻴﺘﻮﻛﻮﻧﺪرﻳﺎت. ﻢﻼةﳉﻻ ﺳﺮﻛﻮﻣﺔ )ﻏﺮن( SarcomaSarcomaSarcomaSarcomaSarcoma ﺳﺮﻃﺎن اﻟﻌﻈﺎم واﻷﻧﺴﺠﺔ اﻟﺮاﺑﻄﺔ ﺳﺮﻃﺎن CancerCancerCancerCancerCancer ﺧﻼﻳﺎ ﻏﻴﺮ ﻃﺒﻴﻌﻴﺔ ﻻ ﺗﺨﻀﻊ ﻟﺴﻴﻄﺮة ﻋﻮاﻣﻞ اﻟﺘﺨﺼﺺ واﻟﻨﻤﻮ

179 ﻗﺎﺋﻤﺔ ا ﺳﻨﺘﺮوﻣﻴﺮ اﻟﻜﺮوﻣﻮﺳﻮم CentromereCentromereCentromereCentromereCentromere ﻣﻨﻄﻘﺔ اﺗﺼﺎل ﳋﻴﻮط اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻐﺰل ﺷﺠﺮة ﻋﺎﺋﻠﺔ PedigreePedigreePedigreePedigreePedigree ﺗﺎرﻳﺦ أﺳﻼف ﺷﺨﺺ ﻣﺎ ﺑﺼﻮرة ﺟﺪول أو ﺧﺮﻳﻄﺔ ﺷﻜﻞ ﻣﻈﻬﺮي PhenotypePhenotypePhenotypePhenotypePhenotype اﻟﺼﻔﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻈﻬﺮﻳﺔ ﻟﻠﺸﺨﺺ وﺗﻌﺘﻤﺪ ﻋﻠﻰ اﻟﺘﺮﻛﻴﺐ اﳉـﻴـﻨـﻲ إﻻ أن ﺗـﺸـﺎﺑـﻪ اﻷﺷﻜﺎل اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻈﻬﺮﻳﺔ ﻻ ﻳﻌﻨﻲ ﺗﺸﺎﺑﻪ اﻟﺘﺮاﻛﻴﺐ اﳉﻴﻨﻴﺔ. ﺷﻔﺮة وراﺛﻴﺔ Genetic codeGenetic codeGenetic codeGenetic codeGenetic code ﺳﻠﺴﻠﺔ ﻣﻦ ﺛﻼث وﺣﺪات ﺑﻨﺎء ﻟﻠﺤﺎﻣﺾ رﻧﺎ اﻟﻨﺎﻗﻞ ﻣﺠﺎورة ﺗﺸﻔﺮ ﳊﺎﻣﺾ أﻣﻴﻨﻲ واﺣﺪ أﺛﻨﺎء ﻋﻤﻠﻴﺔ ﻧﻘﻞ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﻠﻮﻣﺎت اﻟﻮراﺛﻴﺔ ﻣﻦ اﻟﻨﻮاة إﻟﻰ اﻟﺴﻴﺘﻮﺑﻼزم ﻟﻐﺮض ﺑﻨﺎء اﻟﺒﺮوﺗﻴﻨﺎت. وﻫﻲ أرﺑﻌﺔ وﺳﺘﻮن ﻧﻮﻋﺎ ﻣﺤﺪدا اﻟﻌﺸﺮﻳﻦ ﺣﺎﻣـﻀـﺎ أﻣﻴﻨﻴﺎ. ﺻﺒﻴﻐﺔ PigmentPigmentPigmentPigmentPigment ﺻﻔﺎت ﻛﻤﻴﺔ Quantitative traitsQuantitative traitsQuantitative traitsQuantitative traitsQuantitative traits ﺿﻠﻊ ﺿن-صصﲢ-ﺨﲢﻐﻮذﺟﻲ Pattern baldnessPattern baldnessPattern baldnessPattern baldnessPattern baldness ﻃﺒﻌﺔ TemplateTemplateTemplateTemplateTemplate ﻢﻼةﳉﳉﺌةﺧﺌﳋـﻮذج )أو ﻗـﺎﻟـﺐ أو ﻣـﺮﺷـﺪ أو ﻧـﺴـﺨـﺔ( ﻓـﻲ ﺟـﺰيء اﳊــﺎﻣــﺾ اﻟــﻨــﻮوي اﻟﺪﻳﺆﻛﺴﻲ راﻳﺒﻮزي ﻳﺴﺘﻌﻤﻞ ﻟﺘﺤﺪﻳﺪ ﺧﺼـﻮﺻـﻴـﺔ ﺟـﺰيء اﳊـﺎﻣـﺾ اﻟـﻨـﻮوي اﻟﺮاﻳﺒﻮزي اﻟﻨﺎﻗﻞ. وﻟﻜﻮن اﻻزدواج اﻟﻘﺎﻋﺪي ﻣﻠﺰﻣـﺎﻼس اﻟﺴﻼﺳﻞ اﻟﻘﺎﻋﺪﻳﺔ ﻳﺴﺘﺨﺪم ﻛﻄﺒﻌﺔ ﻟﺘﺜﺒﻴﺖ ﻧﺴﺨﺔ ﺳﻠﺴﻠﺔ ﻗﺎﻋﺪﻳﺔ أﺧﺮى. ﻃﻔﺮة MutationMutationMutationMutationMutation ﺗﻐﻴﺮ ﻓﻲ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺎدة اﻟﻮراﺛﻴﺔ )ﻓﻴﻤﺎ ﻋﺪا ﺗﻠﻚ اﻟﺘـﻲ ﲢـﺪث ﻧـﺘـﻴـﺠـﺔ اﻟـﻌـﻤـﻠـﻴـﺎت اﻟﻄﺒﻴﻌﻴﺔ ﻛﺎﻻﻧﻌﺰال واﻻﲢﺎدات اﻟﻮراﺛﻴﺔ اﳉﺪﻳﺪة( ﻳﻨﺘﻘﻞ ﺑﻌﺪ ﻋﻤﻠﻴﺔ اﻻﻧﻘﺴﺎم إﻟﻰ اﻷﺟﻴﺎل اﻟﻼﺣﻘﺔ ﺑﺼﻮرة ﻣﻄﺎﺑﻘﺔ ﻟﻸﺻﻞ. ﻃﻔﺮة ﺗﻠﻘﺎﺋﻴﺔ Spontaneous mutationSpontaneous mutationSpontaneous mutationSpontaneous mutationSpontaneous mutation ﻃﻔﺮة ﲢﺪث ﻃﺒﻴﻌﻴﺎ ﻣﻦ دون اﺳﺘﺤﺪاث ﺑﻮاﺳﻄﺔ اﻟﻌﻮاﻣﻞ اﻟﻜﻴﻤﻴﺎوﻳﺔ أو

180 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن اﻟﻔﻴﺰﻳﺎﺋﻴﺔ. ﻋﺎﻣﻞ رﻳﺴﻮس Rh-factorRh-factorRh-factorRh-factorRh-factor ﻋﺎﻫﺔ وراﺛﻴﺔ Genetic disorderGenetic disorderGenetic disorderGenetic disorderGenetic disorder ﻋﺒﻮر Crossing-overCrossing-overCrossing-overCrossing-overCrossing-over ﻋﻤﻠﻴﺔ ﺗﺨﻤﻦ وراﺛﻴﺎ ﺑﻈﻬﻮر اﻟﺘﺮاﻛﻴﺐ اﳉﺪﻳﺪة ﻟﻠﺠﻴﻨﺎت اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺮﺗﺒﻄﺔ وﻳﺘﺜﺒﺖ ﻣﻨﻬﺎ ﺧﻠﻮﻳﺎ ﺑﻈﻬﻮر اﻟﺘﺮاﻛﻴﺐ اﳉﺪﻳﺪة ﻷﺟﺰاء اﻟﻜﺮوﻣﻮﺳﻮﻣﺎت. ﻳﺤﺪث اﻟﻌﺒﻮر ﻧﺘﻴﺠﺔ ﺗﺒﺎدل اﳉﻴﻨﺎت ﻣﺆدﻳﺎ إﻟﻰ إﻧﺘﺎج اﲢﺎدات ﺟﺪﻳﺪة ﺗﺨﺘﻠﻒ ﻋﻤﺎ ﻫﻲ ﻋﻠﻴﻪ ﻓﻲ اﻷﺑﺎء. واﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺼﻄﻠﺢ ﻋﺒﻮر وراﺛﻲ ﻗﺪ ﻳﻌﻨﻲ اﻻﲢﺎدات اﳉﻴﻨﻴﺔ اﳉﺪﻳﺪة. ﻋﻠﻢ اﻟﻮراﺛﺔ GeneticsGeneticsGeneticsGeneticsGenetics اﻟﻌﻠﻢ اﻟﺬي ﻳﺪرس ﺗﺮﻛﻴﺐ ووﻇﻴﻔﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺎدة اﻟﻮراﺛﻴﺔ وﻃﺮﻳﻘﺔ ﻋﻤﻠﻬﺎ واﻧﺘﻘﺎﻟﻬﺎﻼس ﻛﻤﺎ ﻳﺪرس ﻃﺒﻴﻌﺔ واﻧﺘﻘﺎل اﻟﺼﻔﺎت واﻷﻣﺮاض واﻟﻌﺎﻫﺎت ﻣﻦ ﺟﻴﻞ ﻵﺧﺮ. ﻋﻮاﻣﻞ وراﺛﻴﺔ Genetic factorsGenetic factorsGenetic factorsGenetic factorsGenetic factors وﻳﻘﺼﺪ ﺑﻬﺎ اﳉﻴﻨﺎت ﻓﺤﺺ اﻟﻨﺨﻂ AmniocentesisAmniocentesisAmniocentesisAmniocentesisAmniocentesis ﻋﻤﻠﻴﺔ ﺳﺤﺐ ﻗﻠﻴﻞ ﻣﻦ ﺳﺎﺋﻞ اﻟﻨﺨﻂ اﶈﻴﻂ ﺑﺎﳉﻨﻢﻼةﳉﻻﻵﺨﺬﳋ ﺑﻮاﺳﻄﺔ إﺑﺮة دﻗﻴﻘﺔ ﺗﻐﺮز ﻓﻲ ﺟﺴﻢ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺮأة اﳊﺎﻣﻞ ﻋﻨﺪ ﻣﻨﻄﻘﺔ اﳉﻨﻢﻼةﳉﻻﻵﺨﺬﳋ. ﻳﺘﻢ ﲢﻠﻴﻞ ﺳﺎﺋﻞ اﻟﻨﺨﻂ واﳋﻼﻳﺎ اﳉﻨﻴﻨﻴﺔ اﻟﺴﺎﺑﺤﺔ ﻓﻴﻪ ﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻌﺮﻓﺔ اﻷﻣﺮاض واﻟﺘﺸﻮﻫﺎت اﻟـﻮراﺛـﻴـﺔ ﻓـﻲ اﳉﻨﻢﻼةﳉﻻﻵﺨﺬﳋ. ﻓﺼﺎﺋﻞ اﻟﺪم Blood groupsBlood groupsBlood groupsBlood groupsBlood groups ﻓﺼﺎﺋﻞ ﻏﻴﺮ ﻣﺘﻮاﻓﻘﺔ Incompatible groupsIncompatible groupsIncompatible groupsIncompatible groupsIncompatible groups ﻓﺼﺎﺋﻞ ﻣﺘﻮاﻓﻘﺔ Compatible groupsCompatible groupsCompatible groupsCompatible groupsCompatible groups ﻓﻴﺮوس )راﺷﺢ VirusVirusVirusVirusVirus دﻗﺎﺋﻖ ﻣﺘﻨﺎﻫﻴﺔ ﻓﻲ اﻟﺼﻐﺮ ﺗﺘﻜﻮن ﺧﺎرج اﳋـﻼﻳـﺎ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋـﻀـﻴـﻔـﺔ ﻣـﻦ ﺣـﺎﻣـﺾ ﻧﻮوي )دﻧﺎ أو رﻧﺎ( ﻣﺤﺎط ﺑﻐﻼف ﺑﺮوﺗﻴﻨﻲ. ﺗﺼﻴﺐ اﻟﻔﻴﺮوﺳﺎت ﻣﺨﺘﻠﻒ اﳋﻼﻳﺎ اﳊﻴﻮاﻧﻴﺔ واﻟﻨﺒﺎﺗﻴﺔ واﻟﺒﻜﺘﻴﺮﻳﺔ ﻓﺘﺴﻴﻄﺮ ﺑﺬﻟﻚ ﻋﻠﻰ آﻟﻴﺎت اﳋﻠﻴﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋـﻀـﻴـﻔـﺔ وﲡﺒﺮﻫﺎ ﻋﻠﻰ ﺗﻜﻮﻳﻦ دﻗﺎﺋﻖ ﻓﻴﺮوﺳﻴﺔ ﺟﺪﻳﺪة.

181 ﻗﺎﺋﻤﺔ ا ﻗﺎﻋﺪة ﻧﻴﺘﺮوﺟﻴﻨﻴﺔ Nitrogen baseNitrogen baseNitrogen baseNitrogen baseNitrogen base إﺣﺪى وﺣﺪات اﻟﺒﻨﺎء اﻷﺳﺎﺳﻴﺔ ﻓﻲ اﳊﻮاﻣﺾ اﻟﻨﻮوﻳﺔ ﻗﺰاﻣﺔ DwarfismDwarfismDwarfismDwarfismDwarfism ﻗﻨﺎة ﻓﺎﻟﻮب fallopian tubefallopian tubefallopian tubefallopian tubefallopian tube ﻛﺮﺳﻴﻨﻮﻣﺔ CarcinomaCarcinomaCarcinomaCarcinomaCarcinoma ﺳﺮﻃﺎن اﳉﻠﺪ واﳋﻼﻳﺎ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺒﻄﻨﺔ ﻟﻸﻋﻀﺎء اﻟﻤﺠﻮﻓﺔ ﻛﺮوﻣﺎﺗﻴﺪ ChromatidChromatidChromatidChromatidChromatid أﺣﺪ اﳋﻴﻄﻢﻼةﳉﻻﻵﺨﺬﳋ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺘﺸﺎﺑﻬـﻢﻼةﳉﻻﻵﺨﺬﳋ ﻟـﻠـﻜـﺮوﻣـﻮﺳـﻮم. ﻳـﻨـﺸـﺄ ﻣـﻦ اﻻﻧـﻘـﺴـﺎم اﻟـﺬاﺗـﻲ ﻟﻠﻜﺮوﻣﻮﺳﻮم ﺧﻼل ﻋﻤﻠﻴﺘﻲ اﻻﻧﻘﺴﺎم اﳋﻴﻄﻲ واﻻﺧﺘﺰاﻟﻲ. ﺗﺸـﺘـﺮك أرﺑـﻌـﺔ ﺧﻴﻮط ﻛﺮوﻣﺎﺗﻴﺪﻳﺔ ﻟﺘﻜﻮﻳﻦ اﻟﻮﺣﺪة اﻟﺜﻨﺎﺋﻴﺔ اﻟﻜﺮوﻣﻮﺳﻮم ﺧﻼل اﻟﺪور اﻟﺘﻤﻬﻴﺪي اﻷول ﻟﻼﻧﻘﺴﺎم اﻻﺧﺘﺰاﻟﻲ. ﻛﺮوﻣﻮﺳﻮم ChromosomeChromosomeChromosomeChromosomeChromosome ﺗﺮﻛﻴﺐ ﺧﻴﻄﻲ اﻟﺸﻜﻞﻼس وﻳﺸﺎﻫﺪ ﺑﺼﻮرة واﺿﺤﺔ ﺑﺸﻜﻞ ﻗﻀﻴﺒﻢﻼةﳉﻻﻵﺨﺬﳋ ﻋﻨﺪ ﺗﻘﻠﺼﻪ ﺧﻼل ﻋﻤﻠﻴﺔ اﻻﻧﻘﺴﺎم اﻟﻨﻮوي. وﻟﻜﻞ ﻧﻮع ﻣﻦ اﻟﻜﺎﺋﻨﺎت اﳊﻴﺔ ﻋﺪد ﻢﻼةﳉإﻟﻤﺠﻏﳋﻴﺰ ﻣﻦ اﻟﻜﺮوﻣﻮﺳﻮﻣﺎت. ﻛﺮوﻣﻮﺳﻮم ﺳﻴﻨﻲ XXXXX-----chromosomechromosomechromosomechromosomechromosome ﻛﺮوﻣﻮﺳﻮم ﻳﺮﺗﺒﻂ ﺑﻌﻤﻠﻴﺔ ﲢﺪﻳﺪ اﳉﻨﺲ. ﲢﺘـﻮي اﻷﻧـﺜـﻰ ﻓـﻲ اﻹﻧـﺴـﺎن وﻣﻌﻈﻢ اﳊﻴﻮاﻧﺎت ﻋﻠﻰ ﻛﺮوﻣﻮﺳﻮﻣﻢﻼةﳉﻻﻵﺨﺬﳋ ﻣﻦ ﻫﺬا اﻟﻨﻮع ﺑـﻴـﻨـﻤـﺎ ﻳـﺤـﺘـﻮي اﻟـﺬﻛـﺮ ﻋﻠﻰ ﻓﺮد. ﻛﺮوﻣﻮﺳﻮم ﺻﺎدي YYYYY-----chromosomechromosomechromosomechromosomechromosome ﻛﺮوﻣﻮﺳﻮم ﻧﻈﻴﺮ ﻟﻠﻜﺮوﻣﻮﺳﻮم اﻟﺴﻴﻨﻲ ﻳـﻮﺟـﺪ ﻓـﻲ ﺧـﻼﻳـﺎ ذﻛـﺮ اﻹﻧـﺴـﺎن وﻣﻌﻈﻢ اﳊﻴﻮاﻧﺎت. ﻳﺤﺘﻮي ﻋﻠﻰ ﻋﺪد ﻗﻠﻴﻞ ﻣﻦ اﳉﻴﻨﺎتﻼس ﻋﻠﻰ ﺟﻴﻨﺎت اﻟﺬﻛﻮرة. ﻟﻮﻛﻴﻤﻴﺔ LeukaemiaLeukaemiaLeukaemiaLeukaemiaLeukaemia ﺳﺮﻃﺎن اﻟﺪم

182 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن ﻟﻴﻤﻔﻮﻣﺔ LymphomaLymphomaLymphomaLymphomaLymphoma ﺳﺮﻃﺎن اﻟﻐﺪد اﻟﻠﻴﻤﻔﺎوﻳﺔ ﻣﺒﻴﺾ OvaryOvaryOvaryOvaryOvary ﻏﺪة اﻟﺘﻜﺎﺛﺮ اﻷﻧﺜﻮﻳﺔ ﻓﻲ اﳊﻴﻮاﻧﺎت ﻣﺘﺒﺮع DonorDonorDonorDonorDonor ﻣﺘﻐﻠﺐ )ﺳﺎﺋﺪ DominantDominantDominantDominantDominant ﻳﻄﻠﻖ ﻋﻠﻰ ﻓﺮد ﺟﻴﻨﻲ ﻟﻪ اﻟﻘﺎﺑﻠﻴﺔ ﻋﻠﻰ إﻇﻬﺎر أو ﺑﻴﺎن ﺗﺄﺛﻴﺮه ﺑﺼﻮرة ﻛﺎﻣﻠﺔ وذﻟﻚ ﻢﻼةﳉإﺖﻻﺿﳋﻨﻊ اﻟﻔﺮد اﻵﺧﺮ ﻣﻦ اﻟﺘﻌﺒﻴﺮ ﻋﻦ ﻧﻔﺴﻪ. ﺗﻈﻬﺮ اﻟﺼﻔﺔ اﻟﺘﻲ ﻳﻌﺒﺮ ﻋﻨﻬﺎ .ًﺟﻢﻼةﳉﻻﻵﺨﺬﳋ ﻣﺘﻐﻠﺐ ﺳﻮاء ﻛﺎن اﻟﺘﺮﻛﻴﺐ اﳉﻴﻨﻲ ﻧﻘﻴﺎ أو ﻫﺠﻴﻨﻴﺎ ﻣﺘﻨﺢ RecessiveRecessiveRecessiveRecessiveRecessive ﻳﻄﻠﻖ ﻋﻠﻰ ﻓﺮد ﺟﻴﻨﻲ ﻟﻴﺲ ﻟﻪ اﻟﻘﺎﺑﻠﻴﺔ ﻋﻠﻰ إﻇـﻬـﺎر ﺗـﺄﺛـﻴـﺮه ﺑـﻮﺟـﻮد ﻓـﺮد ﻣﺘﻐﻠﺐ. ﻻ ﺗﻈﻬﺮ اﻟﺼﻔﺔ اﻟﺘﻲ ﻳﻌﺒﺮ ﻋﻨﻬﺎ ﺟﻢﻼةﳉﻻﻵﺨﺬﳋ ﻣﺘﻨﺢ إﻻ ﻋﻨﺪﻣﺎ ﻳﻜﻮن اﻟﺘﺮﻛﻴﺐ اﳉﻴﻨﻲ ﻧﻘﻴﺎ ﺑﺎﻟﻨﺴﺒﺔ ﻟﻪ. ﻣﺠﻬﺮ ﺿﻮﺋﻲMicroscope ﻣﺮض إدواردEdward‘s syndrome ﻣﺮض اﻟﺒﻮل اﻟﻜﻴﺘﻮﻧﻲ اﻟﻔﻴﻨﻴﻠﻲPhenylketonuria ﻣﺮض اﻟﺘﺼﻠﺐ اﳊﺪﺑﻲTuberous sclerosis ﻣﺮض اﻟﺘﻠﻴﻒ اﳊﻮﺻﻠﻲCystic fibrosis ﻣﺮض اﻟﺴﻜﺮDiabetes ﻣﺮض اﻟﺼﻠﺐ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻔﻠﻮج )اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺸﻘﻮقSpina bifida ﻣﺮض اﻟﻈﻔﺮ-اﻟﺮﺿﻔﺔNail-patella syndrome ﻣﺮض ﺗﺎي-ﺳﺎﻛﺲTay-sachs disease ﻣﺮض ﺗﻴﺮﻧﺮTurner‘s syndrome ﻣﺮض داونDown‘s syndrome ﻣﺮض ﻧﺎﻢﻼةﳉﻻNiemann-pick disease ﻣﺮض ﻧﺰﻳﻒ اﻟﺪم اﻟﻮراﺛﻲHaemophilia ﻣﺮض ﻫﺮﻟﺮHurler‘s syndrome

183 ﻗﺎﺋﻤﺔ ا ﻣﺮض ﻫﻨﺘﺮHunter‘s syndrome ﻣﺮض وراﺛﻲGenetic disease ﻣﺮﺗﺒﻂ ﺑﺎﳉﻨﺲ )ﻣﺮﺗﺒﻂ ﺑﺎﻟﻜﺮوﻣﻮﺳﻮم اﻟﺴﻴﻨﻲX-linked ﺟﻢﻼةﳉﻻﻵﺨﺬﳋ ﻳﻘﻊ ﻋﻠﻰ اﻟﻜﺮوﻣﻮﺳﻮم اﻟﺴﻴﻨﻲ أو ﺻﻔﺔ ﺗﺘﺤﺪ ﻣﻦ ﻗﺒﻞ ﻫﺬا اﳉﻢﻼةﳉﻻﻵﺨﺬﳋ ﻣﺴﺘﻘﺒﻞRecipient ﺑﻼزﻣﺎ اﻟﺪم ﻣﻦ دون اﻷﻟﻴﺎف.ﻣﺼﻞSerum ﻣﺼﻞ ﻣﻀﺎد Anti-serumAnti-serumAnti-serumAnti-serumAnti-serum ﻣﺼﻄﻠﺢ ﻣﺮادف ﻟﻠﺠﺴﻢ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻀﺎد ﻣﻮﺟﺎت ﻓﻮق ﺻﻮﺗﻴﺔ Ultra-soundUltra-soundUltra-soundUltra-soundUltra-sound ﻣﻮﺟﺎت ذات ﺗﺮدد ﻋﺎل ﺟﺪا ﺑﺤﻴﺚ ﻻ ﻢﻼةﳉﻻ ﺗﺴﺘﻌﻤﻞ ﻫﺬه اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻮﺟﺎت ﻓﻲ اﻟﻔﺤﺺ اﻟﻄﺒﻲ ﳉﻨﻢﻼةﳉﻻﻵﺨﺬﳋ اﻹﻧﺴﺎن. ﻧﺴﺒﺔ اﻟﺘﻮاﻓﻖ ConcordanceConcordanceConcordanceConcordanceConcordance درﺟﺔ اﻟﺘﺸﺎﺑﻪ ﺑﻢﻼةﳉﻻﻵﺨﺬﳋ اﻟﺘﻮاﺋﻢ أو اﻷﺧﻮة ﻟﺼﻔﺔ واﺣﺪة ﻣـﻌـﻴـﻨـﺔ. ﻳـﻌـﺒـﺮ ﻋـﻨـﻬـﺎ ﺑﻨﺴﺒﺔ ﻣﺌﻮﻳﺔ. ﻧﻈﺎﺋﺮ ﻣﺸﻌﺔ IsotopesIsotopesIsotopesIsotopesIsotopes ذرات ﻣﻦ ﻧﻔﺲ اﻟﻌﻨﺼﺮ ﻟﻬﺎ ﻧﻔﺲ اﻟﻌﺪد اﻟﺬري ﻟﻜﻨﻬﺎ ﺗﺨﺘﻠﻒ ﻓـﻲ اﻟـﻮزن اﻟﺬري وﺗﻜﻮن ﺻﻔﺎﺗﻬﺎ اﻟﻜﻴﻤﻴـﺎوﻳـﺔ ﻣـﺘـﺸـﺎﺑـﻬـﺔﻼس .٢٣واﻟﻔﺴﻔﻮر ﻧﻘﻲ HomozygoteHomozygoteHomozygoteHomozygoteHomozygote ﻓﺮد ﲢﻤﻞ ﻛﺮوﻣﻮﺳﻮﻣﺎﺗﻪ ﺟﻴﻨﺎت ﻣﺘﻤﺎﺛﻠﺔ ﻣﺜـﺎل: ب بﻼس ص. ﻳﻨﺘﺞ اﻟﻔﺮد اﻟﻨﻘﻲ ﺟﺎﻣﻴﺘﺎت ﻣﻦ ﻧﻮع واﺣﺪ ﻓﻴﻤﺎ ﻳﺘﻌﻠﻖ ﻢﻼةﳉإﺖﻻﺿﳋﻨﻄـﻘـﺔ ﺟـﻴـﻨـﻴـﺔ ﻣﻌﻴﻨﺔ ﻓﻼ ﻢﻼةﳉﻻ ﻧﻮاة NucleusNucleusNucleusNucleusNucleus ﺟﺰء اﳋﻠﻴﺔ اﻟﺬي ﻳﺤﺘﻮي ﻋﻠﻰ اﳉﻴﻨﺎت واﻟﻜﺮوﻣﻮﺳﻮﻣﺎت. ﲢﺎط ﺑﻐﺸﺎء ﻧﻮوي وﺗﺸﻜﻞ اﻷﺣﻤﺎض اﻟﻨﻮوﻳﺔ ﻣﺎدﺗﻬﺎ اﻟﻜﻴﻤﻴﺎوﻳـﺔ اﻟـﺮﺋـﻴـﺴـﺔ. ﺗـﻜـﻮن اﻟـﻨـﻮاة ﻋﻠﻰ اﻷﻛﺜﺮ ﻓﻲ اﳋﻼﻳﺎ اﻟﻔﺘﻴﺔ ﻛﺮوﻳﺔ اﻟﺸﻜﻞ ووﺳﻄﻴﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻮﻗﻊﻼس اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺘﻤﻴﺰة ﻻ ﻳﻜﻮن ﻟﻠﻨﻮاة ﺷﻜﻞ ﺛﺎﺑﺖ أو ﻣﻮﻗﻊ ﻣﺤﺪد. وﻇﻴﻔﺘﻬﺎ اﻟﺴﻴﻄﺮة ﻋـﻠـﻰ اﻟﻔﻌﺎﻟﻴﺎت اﳋﻠﻮﻳﺔ اﻟﻤﺨﺘﻠﻔﺔ وﻧﻘﻞ اﳋﺼﺎﺋﺺ اﻟﻮراﺛﻴﺔ. ﻧﻮﻳﺔ NucleolusNucleolusNucleolusNucleolusNucleolus

184 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن ﺗﺮﻛﻴﺐ أو ﺗﺮاﻛﻴﺐ ﺣﺒﻴﺒﻴﺔ ﻣﺘﻤﻴﺰة ﺗﻮﺟﺪ ﻓﻲ ﻧﻮﻳﺎت ذوات اﻟﻨﻮى اﳊﻘﻴﻘﻴﺔ ﺗﻠﻌﺐ دورا ﻓﻲ ﻋﻤﻠﻴﺎت ﺗﺮﻛﻴﺐ ﺣﺎﻣﺾ رﻧﺎ واﻟﺮاﻳﺒﻮزوﻣﺎت وﺗﺮﺗﺒﻂ ﻢﻼةﳉإﺖﻻﺿﳋﻨﻄﻘـﺔ ﻛﺮوﻣﻮﺳﻮﻣﻴﺔ ﻣﺤﺪدة. ﻫﻨﺪﺳﺔ وراﺛﻴﺔ Genetic engineeringGenetic engineeringGenetic engineeringGenetic engineeringGenetic engineering اﻟﻌﻠﻢ اﻟﺬي ﻳﺪرس اﻷﺳﺎس اﳉﺰﻳﺌﻲ ﻟﻠﻮراﺛﺔﻼس ﻣﻦ ﻛﺎﺋﻦ ﺣﻲ ﻷﺧﺮ. وﻣﻦ ﺿﻤﻦ ﺗﻄﺒﻴﻘﺎت ﻫﺬا اﻟﻌﻠﻢ إﻧﺘﺎج ﻛﻤﻴﺎت ﻫﺎﺋﻠﺔ ﻣﻦ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻮاد اﻟﻌﻀﻮﻳﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻬﻤﺔ ﻓﻲ اﻟﺼﻨﺎﻋﺔ واﻟﻄﺐ واﻟﺰراﻋﺔ ﻣﻦ ﻗﺒﻞ ﻋﻀﻴﺎت ﺑﻜﺘﻴﺮﻳﺔ ﺣﻮﻟﺖ إﻟﻰ ﻣﺼﺎﻧﻊ ﺑﻴﻮﻟﻮﺟﻴﺔ. ﻫﻮرﻣﻮن HormoneHormoneHormoneHormoneHormone ﻧﺎﰋ ﻋﻀﻮي ﻟﻨﻮع ﺧﻠﻮي ﻣﻌﻢﻼةﳉﻻﻵﺨﺬﳋ ﻓﻲ اﳉﺴﻢ ﻳﻨﺘﻘﻞ ﻋﺒﺮ اﻟﺴﻮاﺋﻞ إﻟﻰ أﻗﺴﺎم أﺧﺮى ﻣﻦ اﳉﺴﻢ ﺣﻴﺚ ﻳﺆﺛﺮ ﻋﻠﻰ اﻟﻔﻌﺎﻟﻴﺎت اﳊﻴﻮﻳﺔ أو ﻳﺨﺪم اﳉﺴﻢ ﻛﻌﺎﻣﻞ ﺗﻨﻈﻴﻤﻲ. ﻫﻴﻤﻮﺟﻠﻮﺑﺿن-صﻈفﺻبﻐ HaemoglobinHaemoglobinHaemoglobinHaemoglobinHaemoglobin ﺑﺮوﺗﻢﻼةﳉﻻﻵﺨﺬﳋ ﻳﻮﺟﺪ ﻓﻲ ﺧﻼﻳﺎ اﻟﺪم اﳊﻤﺮاء ﻣﺴﺆول ﻋﻦ ﻧﻘﻞ اﻷوﻛﺴﺠﻢﻼةﳉﻻﻵﺨﺬﳋ ﻓـﻲ اﳉﺴﻢ. وﺣﺪة ﺛﻨﺎﺋﻴﺔ اﻟﻜﺮوﻣﻮﺳﻮم BivalentBivalentBivalentBivalentBivalent زوج ﻣﻦ اﻟﻜﺮوﻣﻮﺳﻮﻣﺎت اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﺘﻤﺎﺛﻠﺔ اﻢﻼةﳉىﺧﻪﺨﻏهﻇﳋﻘﺘﺮﻧﺔ ﺗﺘﻜﻮن ﻣﻦ أرﺑﻌﺔ ﻛﺮوﻣﺎﺗﻴﺪات وراﺛﺔ HeredityHeredityHeredityHeredityHeredity وراﺛﺔ ﻛﻤﻴﺔ ﻣﺘﺠﺎوزة )ﻣﺘﻌﺪﻳﺔ Transgressive quantitative Genetics وراﺛﻲ )ﻣﺘﺨﺼﺺ ﻓﻲ ﻋﻠﻢ اﻟﻮراﺛﺔ GeneticistGeneticistGeneticistGeneticistGeneticist ورم ﺧﺒﻴﺚ )ﺳﺮﻃﺎﻧﻲ))))) Malignant tumour (cancerMalignant tumour (cancerMalignant tumour (cancerMalignant tumour (cancerMalignant tumour (cancer ورم ﻏﻴﺮ ﺧﺒﻴﺚ )ﺣﻤﻴﺪBengin tumourBengin tumourBengin tumourBengin tumourBengin tumour

185 ﻗﺎﺋﻤﺔ ا اﳌﺼﺎدر اﻟﺮﺋﻴﺴﻴﺔ Avers, C.J.(1980) Genetics. D. Van Nostrand Company. - Bodmer, W. F. and Cavalli - sforza L. L (1976) Genetics, Evolution and Man Aan Francisco, W.H. Freeman. - Burns, George W. (1980) The science of Genetics. Macmillan Publishing Co. Inc. - Emery, A. E. H. (1971) Elements of Medical Genetics. Edinburgh, E. & S. Livingstone. - Kamin, Leon J. (1974) The Science and Politics of I. Q. Penguin Books. - Mckusick V. A (1978) Mendelian Inheritance in Man, Baltimore, The Jhons Hopkins Press. Old, R. W. and Primrose, S.B (1981) Principles of Gene Manpulation. Blackwell Scientific Publications. Oxford. - Scientific American (1969) Facets of Genetics. W.H Freeman & Co. California. - Scheinfeld, A. (1961) The New Yon and Heredity, Chatto and Windus, London. - Stern, C. (1973) Principles of Human Genetics. San Francisco, W.H. Freeman. - Thompson, J.S. and Thompson, M.W. (1980) Genetics in Medicine. W.B. Saunders Company, Philadelphia. - Winchester A.M. and Mertens T.R. (1983) Human Genetics. Charles E. Merrill Publishing Company. Ohio

186 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن

187 ﻣﻠﺤﻖ ﻣﻠﺤﻖ ذﻛﺮ ﻧﺎﺿﺞأﻧﺜﻰ ﻧﺎﺿﺠﺔ ﺧﻠﻴﺔ أﻣﻴﺔ أوﻟﻴﺔ ﺧﻠﻴﺔ أﺑﻮﻳﺔ أوﻟﻴﺔ Primary oocytePrimary spermatocyte First polar bodySecondary oocyteSecondary spermatoctes Spermatids Ooti Secondary polar bodies Sperms ﺑﻮﻳﻀﺔﺣﻴﺎﻣﻦ Egg Zygoteﺑﻮﻳﻀﺔ ﻣﺨﺼﺒﺔ ﺟﻨﻢﻼةﳉﻻﻵﺨﺬﳋ ﻃﻔﻞ ١- دورة ﺣﻴﺎة اﻹﻧﺴﺎن

188 اﻟﻮراﺛﺔ واﻹﻧﺴﺎن SINGLE-FACTOR INHERITANCE اﻵﺑﺎءParents أﺳﻮد ﻧﻘﻲﺑﻨﻲ ﻧﻘﻲ BB bb Homozygous (pure-breeding) black mouse x Homozygous brown mouse Gamete Mother Cells اﳋﻼﻳﺎ اﻷﻣﻴـﺔ ﻟﻠﺠﺎﻣﻴﺘﺎت اﻧﻘﺴﺎم اﺧﺘﺰاﻟﻲMEIOSIS GAMETESﺟﺎﻣﻴﺘﺎت إﺧﺼﺎبFERTILIZATION ZYGOTEﺑﻮﻳﻀﺔ ﻣﺨﺼﺒﺔ F1 PROGENY اﳉﻴﻞ اﻻول sperms ova Bb Bb Bb Bb أﺳﻮد ﻫﺠﻢﻼةﳉﻻﻵﺨﺬﳋ all heterozygous black أ- اﳉﻴﻞ اﻷول٢- ﻟﻮن اﳉﺴﻢ ﻓﻲ اﻟﻔﺌﺮان ﻛﻤﺜﺎل ﻋﻠﻰ وراﺛﺔ ﻋﺎﻣﻞ واﺣﺪﺷﻜﻞ )٣٣

189 ﻣﻠﺤﻖ SINGLE-FACTOR INHERITANCE اﻵﺑﺎء PARENTS )ﻣﻦ اﳉﻴﻞ اﻻولBb Bb Heterozygous black mouse Heterozygous black mouse (both from, F2 progeny)X أﺳﻮد ﻫﺠﻢﻼةﳉﻻﻵﺨﺬﳋ اﳋﻼﻳﺎ اﻹﻣﻴﺔ ﻟﻠﺠﺎﻣﻴﺘﺎت GAMETE MOTHER CELLS أﺳﻮد ﻫﺠﻢﻼةﳉﻻﻵﺨﺬﳋ اﻧﻘﺴﺎم اﺧﺘﺰاﻟﻲ MEIOSIS ov2 2 possibilities ﺟﺎﻣﻴﺘﺎت GAMETE sperms (2 possibilities) اﲢﺎدات ﻣﺤﺘﻤـﻠـﺔ أﺛﻨﺎء اﻻﺧﺼﺎب POSSIBILITIES OF COMBINATION AT FERTILIZATION ﺑﻮﻳﻀﺎت ﻣﺨﺼﺒﺔ POSSIBLE ZYGOTES اﳉﻴﻞ اﻟﺜﺎﻧﻲ )٣ أﺳﻮد: ﺑﻨﻲ( F2 Progeny (probability) 3 black: 1 brown BB Bb bB bb Homozygous black Heterozygous black Heterozygous black Homozygous brown أﺳﻮد ﻫﺠﻢﻼةﳉﻻﻵﺨﺬﳋب- اﳉﻴﻞ اﻟﺜﺎﻧﻲأﺳﻮد ﻧﻘﻲأﺳﻮد ﻫﺠﻢﻼةﳉﻻﻵﺨﺬﳋﺑﻨﻲ ﻧﻘﻲ