Abstract:
:It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mechanisms may play an important role. A total of 572 consecutive newborns, 93 consecutive low birthweight infants, 46 couples with unexplained habitual abortion, and 24 couples with unexplained sterility were studied. The proportion of ADA 2-1 phenotype was reduced in couples with reproductive defects. In the sample of consecutive newborns the proportion of ABO incompatible babies was higher among ADA 2-1 than among ADA 1 types. ADA 2-1 phenotype was also associated with a reduction in the variability of gestational length. These associations were much more marked among male than among female babies. The proportion of ADA 2-1 was significantly lower in low birthweight infants than in the consecutively studied infants and normal adults. The present data suggest that biochemical variability resulting from the normal ADA polymorphism may be, at least in part, responsible for the variability of some immunological functions and related physiological variables and pathological conditions. They also provide evidence in favour of a selective advantage of ADA heterozygotes.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Bottini E,Carapella E,Cataldi L,Nicotra M,Lucarelli P,Lucarini N,Pascone R,Gloria-Bottini Fdoi
10.1136/jmg.18.5.331subject
Has Abstractpub_date
1981-10-01 00:00:00pages
331-4issue
5eissn
0022-2593issn
1468-6244journal_volume
18pub_type
杂志文章abstract::A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.042119
更新日期:2006-12-01 00:00:00
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更新日期:1984-06-01 00:00:00
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更新日期:1997-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100858
更新日期:2012-11-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.18.1.59
更新日期:1981-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
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更新日期:2009-09-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2015-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1991-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.2.114
更新日期:1984-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.4.266
更新日期:1992-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.10.642
更新日期:1989-10-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
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更新日期:1997-10-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.5.369
更新日期:1993-05-01 00:00:00
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更新日期:1995-05-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1999-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1987-08-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2011-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1998-05-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1989-05-01 00:00:00
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更新日期:1996-06-01 00:00:00
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更新日期:2000-09-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1999-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.27.11.715
更新日期:1990-11-01 00:00:00