Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.

Chakravarti, Aravinda; Phillips, John A.; Mellits, Kenneth H.; Buetow, Kenneth H.; Seeburg, Peter H.

doi:10.1073/pnas.81.19.6085

Cited by 79 publications

(40 citation statements)

References 15 publications

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“…20 - 28 Ludwig and coworkers found a total of 60 nucleotide substitutions and 39 amlno acid substitutions. Although some of these differences might be due to errors in DNA sequencing, others must be real.…”

Section: Resultsmentioning

confidence: 99%

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Bsp 12861 restriction fragment length polymorphism detects Ag(c/g) locus of human apolipoprotein B in all 17 persons studied.

Wang

Bütler

et al. 1989

Arteriosclerosis

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Section: Resultsmentioning

confidence: 99%

“…It is known that Ag(c/g) lies within thrombin cleavage fragment T4, 28 which extends to amino acid residue 1297. 24 In this region, Ludwig et al 19 tabulated eight additional polymorphisms, which result in amino acid changes among the six published sequences that they examined.…”

Section: Discussionmentioning

confidence: 99%

Bsp 12861 restriction fragment length polymorphism detects Ag(c/g) locus of human apolipoprotein B in all 17 persons studied.

Wang

Bütler

et al. 1989

Arteriosclerosis

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“…The linkage disequilibrium coefficient delta was estimated as described. 23 Average excess values associated with RFLP alleles or haplotypes were calculated as described by Templeton.…”

Section: Methodsmentioning

confidence: 99%

Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.

Humphries

Coviello

Masturzo

et al. 1991

Arterioscler Thromb

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We have used four restriction fragment length polymorphisms (RFLPs) of the human low density lipoprotein receptor (LDL-R) gene, detected by the restriction enzymes Ava ILPVM IL and ApaU (5' and 3'), to study the effect of variation at this gene locus in determining plasma cholesterol and LDL cholesterol levels. Two hundred eighty-nine nonmolipidemic individuals were studied from the Liguria region of Italy. The Pvu M RFLP was significantly associated with differences in plasma total and LDL cholesterol levels, explaining 9.6% of the sample variance in LDL cholesterol levels. The other RFLPs, which are in strong linkage disequilibrium with the Pvu II RFLP, were associated with smaller effects on LDL cholesterol. The Pvu II allele, distinguished by the presence of the variable cutting site (P2 allele), was associated with lower levels of total and LDL cholesterol, and the frequency of the P2 allele was significantly reduced in individuals with LDL cholesterol levels higher than the 75th percentile. The frequency of the P2 allele was significantly higher in the group of individuals over 65 years old, and in this gronp the P2 allele was also associated with a similar reduction in LDL cholesterol levels. Because of linkage disequilibrium, only four RFLP haplotypes were common in this sample. Of these, only the haplotype P2A2VI (relative frequency, 0.269) was associated with a reduction in LDL cholesterol (average excess, -11.5 mg/dl). Our data confirm, in the Italian population, the association observed with the Pvu H RFLP by others, and the higher relative frequency of the LDL cholesterol-lowering P2 allele in individuals over the age of 65 years suggests that the allele may be associated with increased survival. (Arteriosclerosis and Thrombosis 1991;ll:509-516)

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“…Initial screening for DNA polymorphisms was performed in a panel of [10][11][12][13][14][15][16][17][18][19][20] Caucasian and American Black individuals using two probes, 12 (14). Blots were subsequently washed and rescreened with probes derived from HIR 12.1 ( Fig.…”

Section: Methodsmentioning

confidence: 99%

“…For Caucasians, analysis included data from complete haplotypes (see below). The significance of any deviations of the observed frequencies from those expected based on random assortment (linkage equilibrium) of the five RFLPs was tested by x2 analysis and by calculation of the standardized disequilibrium statistic, A (16). Mendelian inheritance of all five RFLPs and of haplotypes was demonstrated in eight Caucasian nuclear families of which two had three generations.…”

Section: Methodsmentioning

confidence: 99%

Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis.

Elbein¹,

Corsetti²,

Ullrich³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

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Although resistance to insulin action is a well-studied phenomenon in non-insulin-dependent diabetes and certain genetic syndromes, the role of inherited defects of the insulin receptor in these disorders is unknown. To facilitate the evaluation of that role, restriction fragment length polymorphisms (RFLPs) were identified using various portions of the insulin receptor cDNA to examine digested DNA from American Blacks, Pina Indians, and Caucasians. Five RFLPs were identified in Caucasians. Two of these were detected with a single 1.3-kilobase probe in Rsa I digests with minor allele frequencies of 0.48 and 0.23. An additional RFLP was noted with Bgl H and two more RFLPs with Sac I using a different 1.6-kilobase probe, with minor allele frequencies of 0.17 for Bgl II and 0.12 for both Sac I RFLPs. All RFLPs except for the second Sac I RFLP were present in American Blacks, while only the Rsa I RFLPs were present in Pima Indians. Pairwise analysis showed random association between all sites except for the Bgl II and second Rsa I sites, where the disequilibrium statistic, A, was -0.70 (different from 0 at P < 0.001). No association of any RFLP was noted with non-insulin-dependent diabetes in a small population. These studies show that this is a highly informative locus that should be important for mapping of chromosome 19p and for linkage studies.

show abstract

Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.

Cited by 79 publications

References 15 publications

Bsp 12861 restriction fragment length polymorphism detects Ag(c/g) locus of human apolipoprotein B in all 17 persons studied.

Bsp 12861 restriction fragment length polymorphism detects Ag(c/g) locus of human apolipoprotein B in all 17 persons studied.

Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.

Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis.

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