Abstract:
:Molecular diagnostics of the LHR gene was conducted in a 5-year-old boy with clinical symptoms and hormonal profile typical of precocious puberty. His parents and 4 sisters were also diagnosed. Single-strand conformation polymorphism analysis under temperature gradient conditions (Multitemperature SSCP) of 3 overlapping fragments of exon 11 of LHR gene revealed a mutation in the fragment spanning nucleotides 1072 to 1804. This mutation was found in the patient, in his mother and in his 4 sisters, and was confirmed by digestion with the use of restriction enzyme Bbr Cl. Direct sequencing revealed a heterozygous T1193C transition in the DNA fragment of the patient and in one of the alleles of his mother's and sister's DNA. This mutation causes Met398Thr substitution in the second transmembrane helix and results in a constitutive activation of LH receptor. This is the second identical mutation detected in Poland and one of the 7 identified so far in the world population.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Ignacak M,Starzyk J,Dziatkowiak H,Trzeciak WHdoi
10.1007/BF03344001keywords:
subject
Has Abstractpub_date
2002-03-01 00:00:00pages
259-63issue
3eissn
0391-4097issn
1720-8386pii
6010journal_volume
25pub_type
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2005-01-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343879
更新日期:2001-07-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349779
更新日期:1995-09-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347936
更新日期:1991-11-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1007/BF03346703
更新日期:2011-01-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350225
更新日期:1988-12-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347737
更新日期:1994-06-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346863
更新日期:1991-07-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1007/BF03349339
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348732
更新日期:1992-04-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350502
更新日期:1982-03-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/s40618-015-0327-2
更新日期:2016-01-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-015-0360-1
更新日期:2015-12-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8883
更新日期:2013-09-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347659
更新日期:1993-02-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0206-2
更新日期:2015-02-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347807
更新日期:1995-03-01 00:00:00