Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

作者：Khalak Hanif G; Wakil Salma M; Imtiaz Faiqa; Ramzan Khushnooda; Baz Batoul; Almostafa Abeer; Hagos Samya; Alzahrani Fatema; Abu Dhaim Nada; Abu Safieh Leen; Al Jbali Latifa; Al Hamed Mohammed; Monies Dorota; Aldahmesh Mohammed; Al Dosari Mohammed S; Kaya Namik; Shamseldin Hanan; Shaheen Ranad; Al Rashed May; Hashem Mais; Al Tassan Nada; Meyer Brian; Alazami Anas M; Alkuraya Fowzan S^*

来源：Genetics in Medicine, 2012, 14(5): 515-519.

DOI：10.1038/gim.2011.28

• autozygome
• dispensable
• copy number variants
• human development

Purpose: Copy number variants are an important source of human genome diversity. The widespread distribution of hemizygous copy number variants in the DNA of healthy humans suggests that haplo-insufficiency is largely tolerated. However, little is known about the extent to which corresponding nullizygosity (two-copy deletion) is similarly tolerated. %26lt;br%26gt;Methods: We analyzed a cohort of first cousin unions to enrich for shared parental hemizygous events and tested their Mendelian inheritance in offspring. %26lt;br%26gt;Results: Analysis of autozygous DNA blocks (autozygome) in the offspring not only proved an efficient method of mapping %26quot;dispensable%26quot; DNA but also revealed potential selective bias against the occurrence of nullizygous changes. This bias was not restricted to genic copy number variants and was not accounted for by a high rate of miscarriages. %26lt;br%26gt;Conclusions: The autozygome is an efficient way to map dispensable segments of DNA and may reveal selective bias against nullizygosity in healthy individuals.

• 出版日期2012-5