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1. 遺伝的変異の概要overview of genetic variation [show details]
…majority of heritable phenotypic variation is due to alterations in DNA sequence. In contrast, the genetics of Mendelian conditions caused by rare mutations that occur sporadically or that are inherited have… non-egg and sperm cells) typically are diploid for all 22 autosomes (non-sex-linked chromosomes) and have two sex chromosomes,…
2. 遺伝学：用語集genetics glossary of terms [show details]
… are haploid (one copy of each autosome and one sex chromosome) DNA (deoxyribonucleic acid) is the primary molecular constituent of chromosomes that stores the genetic information of most living organisms …
3. 遺伝学およびゲノミクスのためのツール：細胞遺伝学および分子遺伝学tools for genetics and genomics cytogenetics and molecular genetics [show details]
… Intense genetic research has exponentially increased our knowledge of the genetic code of humans and other organisms,… for assessment of whether the correct number of each chromosome is present (two of each autosome plus the sex chromosomes) and whether there are structural abnormalities.…
4. 原発性早期卵巣障害（早期卵巣機能不全）の病因と原因pathogenesis and causes of spontaneous primary ovarian insufficiency premature ovarian failure [show details]
… the majority of the known genetic factors are extremely rare and do not warrant widespread genetic screening outside a research setting.… and duplications and balanced X chromosome-to-autosome translocations are the most common causes of POI.…
5. 染色体の転座、欠失、および逆位chromosomal translocations deletions and inversions [show details]
… loss or duplication of genetic material (ie, balanced rearrangements) or they may be unbalanced: Balanced rearrangements are frequently inherited and are not commonly associated… There are 23 pairs of chromosomes with 22 pairs of autosomes and two sex chromosomes,…