Abstract:
:Since 1967 a syndrome characterized by renal disease, normochromic anaemia and corneal opacities has been described in 7 members of 3 different Norweigan families. The patients have low levels of esterified cholesterol and lack LCAT (lecithin: cholesterol acyltransferase) activity in plasma. The genetic basis of the disorder seems to be the presence of a LCAT deficiency gene in double dose. This gene is probably the result of a single mutational event. Linkage studies revealed non-random assortment between LCTA deficiency and serum haptoglobin (Hp) types. After Hp subtyping a combined lod score of 3-41 at a recombination fraction of 0-00 was obtained. Association was revealed between the LCAT deficiency gene and the Hp-1S gene. We propose that the LCAT gene is situated close to the alpha-haptoglobin locus on chromosome no. 16.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Teisberg P,Gjone E,Olaisen Bdoi
10.1111/j.1469-1809.1975.tb00617.xsubject
Has Abstractpub_date
1975-01-01 00:00:00pages
327-31issue
3eissn
0003-4800issn
1469-1809journal_volume
38pub_type
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pub_type: 杂志文章
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
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pub_type: 杂志文章
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pub_type: 杂志文章
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