共查询到20条相似文献,搜索用时 31 毫秒
1.
Tone Ikdahl Anderson Ketil Riddervold Heimdal Martina Skrede Kjell Tveit Kåre Berg Anne-Lise Børresen 《Human genetics》1994,94(6):665-670
The allele frequencies of three restriction fragment length polymorphisms at the oestrogen receptor (ESR) locus were compared between breast cancer patients and controls. Leucocyte or tumour DMA from 238 and 122 patients, respectively, and leucocyte DNA from 672 controls was analysed. Alleles having the XbaI restriction site detected by the M72 probe (covering exon 2 and flanking introns) were significantly more frequent in patients than in controls (P = 0.033). Within the breast cancer population, the presence of the XbaI restriction site was associated with late onset of the disease but this association was only of borderline significance. The allele frequencies of the BstUI polymorphism in exon 1 and the PvuII polymorphism in intron 1 did not differ between cases and controls. However, alleles with the PvuII restriction site were more frequent in patients with progesterone receptor negative primary tumours than in patients with progesterone receptor positive primary tumours (P = 0.027). There was no significant association between any of the ESR polymorphisms and the oestrogen receptor status of the primary tumours. The results indicate that the ESR gene or a gene closely linked to it is involved in the development of at least a subset of breast carcinomas. 相似文献
2.
M. Kmieć I. Kowalewska-Łuczak K. Wojdak-Maksymiec H. Kulig T. Grzelak 《Russian Journal of Genetics》2010,46(1):81-85
The study on polymorphism within the STAT5A gene (transition C6853T) was conducted using the PCR-RFLP method and AvaI restrictase. The study covered a herd of 723 cows of the Polish Red-and-White variety of Holstein Friesian breed, kept for
dairy purposes in the Opole region, Poland. Two alleles (C and T) of the analyzed STAT5A polymorphism were found in the studied herd. The alleles determined the occurrence of two genotypes: CC and CT. The homozygous TT genotype was not found. The STAT5A/AvaI allele frequencies were as follows: C—88.31% and T—11.69%, whereas the genotype frequencies were 76.6% for CC and 23.4% for CT. The analysis of associations between the STAT5A/AvaI polymorphism and milk utility traits considered in the study showed that these traits were different in animals with different
STAT5A/AvaI genotypes. 相似文献
3.
A PvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific marker 总被引:4,自引:0,他引:4
Martin F. Fey Jim S. Wainscoat E. C. Mukwala A. G. Falusi Tom J. Vulliamy Lucio Luzzatto 《Human genetics》1990,84(5):471-472
Summary The site of a PvuII restriction fragment length polymorphism (RFLP) of the human glucose-6-phosphate dehydrogenase (G6PD) gene has been located in intron V, 60 bp upstream of G6PD exon VI. A population survey shows this RFLP to be specific for African populations, with frequencies of the rarer allele (PvuII type 2 site present) of 0.32–0.40 in Kenyans, Nigerians, Zambians, and West Indians. This allele has not been found in the European, Asian and Middle Eastern populations studied. Such population-specific markers may be useful in the study of population affinities and may provide insight into prehistoric migrations of peoples. 相似文献
4.
Anna M. Kessling Rohan Taylor Anne Temple Julie Hutson Alicia Hidalgo Steve E. Humphries 《Human genetics》1988,78(3):237-239
Summary We have used a 1.05-kb unique genomic fragment from the 5 end of the apolipoprotein (apo) CIII gene to identify a restriction fragment length polymorphism (RFLP) detected with the restriction enzyme PvuII, in the apoCIII-apoAIV intergenic region. In a sample of 220 normolipidaemic individuals from the UK population, the frequency of the rare allele, VB2 is 0.054. The PvuII polymorphism is in apparent linkage equilibrium with three other RFLPs of this gene cluster, detected with the restriction enzymes XmnI, PstI and SstI, but in linkage disequilibrium with an RFLP in the apoCIII gene also detected with PvuII. Taken together, these five RFLPs have a PIC (polymorphism information content) value of 0.8, and therefore are informative for genetic studies. Individuals with the genotype VB1VB2 had lower mean concentrations of apoAI, and HDL-cholesterol than individuals with the genotype VB1VB1. However these differences were not statistically significant. 相似文献
5.
The duplicated gene copy of the ovine growth hormone gene contains a PvuII polymorphism in the second intron 总被引:1,自引:0,他引:1
PvuII restriction fragment length polymorphism (RFLP) was found at the growth hormone locus in sheep carrying the GH2 allele where the gene is duplicated. By restriction analysis and using the polymerase chain reactibn we demonstrated that this RFLP is due to a mutation at the Pvu II site located in the second intron of the 3′ copy of the GH2 allele. 相似文献
6.
P. U. Cameron H. A. Tabarias B. Pulendran W. Robinson R. L. Dawkins 《Immunogenetics》1990,31(4):253-264
A degree of conservation of the genes located between class II and class I [central major histocompatibility complex (MHC) genes] is apparent among mammalian species including primates and the mouse. Few others have been analyzed. The caprine MHC is of particular interest, since it has recently been observed that susceptibility to a lentivirus-induced polyarthritis (caprine arthritis) segregates with serologically defined MHC class I antigens. This arthritis resembles, in a number of respects, rheumatoid arthritis in man. Human cDNA probes were used to examine the caprine central MHC and class I and II genes by restriction fragment length polymorphism (RFLP) and by pulsed field gel electrophoresis (PFGE) in order to define the polymorphism and linkage of central MHC genes to class I and class II genes. An outbred population of dairy goats (Saanen, British Alpine, Anglo Nubian, and Toggenberg) was examined for class I and class II RFLPs. Both regions were found to be highly polymorphic. The number of fragments hybridizing to an HLA-B7 probe after Eco RI, Bam HI, Bgl II, or Hind III digestion suggests there may be 10–13 class I genes. The degree of polymorphism was comparable to that reported in the mouse. Limited polymorphism was found in the central MHC genes. The caprine C4 and CYP21 genes were duplicated and demonstrated RFLP with Bam HI, Hind III, Eco RV, and Taq I. An infrequent Taq I C2 polymorphism was found. PFGE revealed substantial conservation of both the order and linkage of the central MHC genes when compared with mous and man. C4, C2, CYP21, HSP70, and tumor necrosis factor (TNF) genes are all located within 800 kilobase (kb) of the class I loci. Distant from the class I region, the C4, C2, and CYP21 genes are linked on a short genomic segment (180 kb Not I and 190 kb Pvu I fragments). HSP70 cohybridizes with the complement genes on a 380 kb Mlu I fragment. Linkage of HSP70, TNF, and class I genes was found on a single Not I fragment (610 kb). TNF and class I cohybridize on Pvu I (730 kb) and Not I (610 kb) fragments. Conservation of a similar central MHC genomic structure across species argues for functional interaction between the central MHC genes. We postulate selection for these central MHC genes through their role as non antigen-specific regulators of immune response. 相似文献
7.
M. R. Teutsch J. A. Stewart‐Haynes J. E. Beever A. Xu L. B. Schook H. A. Lewin 《Animal biotechnology》2013,24(2):185-199
Abstract The genetic diversity of bovine major histocompatibility complex (BoLA) haplotypes within the Angus breed was studied. Four BoLA loci were chosen for our study; BoLA‐A, complement factor B (Bf), cytochrome P450 steroid 21‐hydroxylase (CYP21) and BoLA‐DQB. Polymorphism of BoLA‐A products was determined by serology. Alleles of the Bf, CYP21 and BoLA‐DQB loci were distinguished by restriction fragment length polymorphism (RFLP) analysis. Thirteen different haplotypes were identified, eleven of which were confirmed by segregation analysis in a paternal half‐sibling family of Angus cattle (n=9 offspring). These thirteen haplotypes were comprised of 9 BoLA‐A alleles and a “blank”, two Bf alleles detected with TaqI, two CYP21 alleles detected with PstI, and eight DQB alleles detected with Taql and PvuII. Two haplotypes containing the supertypic BoLA‐URAA specificity were clearly differentiated by Bf and DQB typing. Two haplotypes distinguished by the BoLA‐A alleles w2 and w3, shared the same DQB?2 allele. Nine and four haplotypes carried the Bf?1 and Bf?2 alleles, respectively. Three haplotypes carried CYP21?A and ten contained CYP21?B. Linkage between BoLA‐A and the CYP21 locus, both previously mapped to chromosome 23 by synteny mapping, was confirmed by segregation analysis. These results demonstrate that extended BoLA haplotypes are useful for studying genetic diversity within a breed. 相似文献
8.
9.
James S. Brush Olse Sonne Jørgen Gliemann 《Biochimica et Biophysica Acta (BBA)/General Subjects》1983,757(3):269-273
The cleavage of insulin by the partially purified insulin protease was studied using the four [125I]tyrosine-monoiodoinsulins (tyrosine A-14 and A-19 of the A-chain; tyrosine B-16 and B-26 of the B-chain). The rates of conversion of the four isomers to trichloroacetic acid-soluble form was in the order B-26 > A-14 > A-19 > B-16. The following was observed in experiments which gave 19/14/5/3 percent conversion to trichloroacetic acid-soluble products: the loss of ability to bind to IM-9 lymphocytes was approx. 55% for all four isomers. About 70% of the radioactivity was in the ‘insulin’ peak, and about 30% was in peptides smaller than insulin as judged by gel filtration on Sephadex G-50. The descending limb of the ‘insulin’ peak contained significant amounts of radioactive material not binding to IM-9 lymphocytes. This material showed multiple peaks when applied to high performance liquid chromatography. Other experiments were designed to cause an almost complete degradation of the isomers. Under these conditions, the radioactivity eluted on Sephadex G-50 largely as iodotyrosine (and some small peptides) using the A-14, B-16 and B-26 isomers, whereas iodotyrosine was absent using the A-19 isomer. Thus, the insulin protease appears to first degrade insulin to multiple products with molecular sizes slightly smaller than insulin and subsequently to small peptides (e.g. containing tyrosine A-19) and amino acids (e.g. tyrosine A-14, B-16 and B-26). 相似文献
10.
A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. 相似文献
11.
To relate the pharmacokinetics of orally administered lansoprazole in healthy adult Jordanian men with CYP2C19 polymorphisms
and to determine the percentage of CYP2C19 polymorphism in Jordanian population and the allelic frequency of CYP2C19*2 and CYP2C19*3. A total of 78 healthy Jordanian volunteers were included in this study from three different bioequivalence studies, one
of these studies which included 26 volunteers was done on lansoprazole. Genotyping for CYP2C19*1, CYP2C19*2, CYP2C19*3 was done for all 78 volunteers, the data of genotyping of all subjects used for screening the frequency of different genotypes
and the allelic frequency of different polymorphisms in healthy Jordanian men, the pharmacokinetics and genotyping data for
the study of lansoprazole was matched and compared to investigate presence of statistical differences in pharmacokinetic parameters.
In Jordanian subjects, the allele frequencies of the CYP2C19*2 and CYP2C19*3 mutation were 0.16 and 0, respectively. The concentration–time curves in the two groups [homozygote extensive metabolizer
(homEM, n = 19) and heterozygote extensive metabolizer (homEM, n = 7)] groups were fitted to a non-compartment model. In the homEM and in the hetEM groups, the main kinetic parameters were
as follows: Tmax (2.1875 ± 0.777) and (2.54 ± 1.87) h, Cmax (697.875 ± 335) and (833.58 ± 436.26) mg/l, t1/2 (1.3 ± 0.43) and (2.38 ± 1.64) h, AUC(0→∞) were (1,684.9 ± 888) and (3,609.8 ± 318) mg h l−1, respectively. The Jordanian population showed similarities in CYP2C19 allele and genotype distribution pattern with Caucasians and Africans. CYP2C19 allele and poor metabolizer (PM) genotype frequencies in the Jordanian population are distinct from populations’ from East
Asia such as Japanese and Koreans. Although lower pharmacokinetic parameters were found in homEM compared to hetEM but there
was no significant difference between the two groups (P < 0.05). 相似文献
12.
Populations of Large White, Large Black, Poltava Meaty, Pietrian, and Meishan pigs are characterized by intron PvuII polymorphism in the estrogen receptor 1 gene (ESR1). These breeds differ in ESR1 alleles and genotypes frequencies. In the populations, there are deviations in the genotype distribution from the Hardy-Weinberg equilibrium. The established estrogen receptor 1 locus association with the reproductive traits of Large White sows indicates the possibility of using intron ESR1 PvuII polymorphism as a genetic pregnancies marker in pig selection. 相似文献
13.
Association of genetic polymorphism inGH gene with milk production traits in Beijing Holstein cows 总被引:5,自引:0,他引:5
Associations were analysed between polymorphisms of the growth hormone gene (GH-MspI) (localized in intron 3) and milk production traits of Beijing Holstein cows (a total of 543 cows). Polymerase chain reaction
(PCR)-restriction fragment length polymorphism (RFLP) method was used for identification of various geno-types. Frequencies
of genotypes were 0.77, 0,21 and 0.02 for A/A, A/B and B/B, respectively. The frequency of theGH
A allele is 0.875.
The results of the least squares means show that in all three lactations, theGH A/A cows yielded more milk (P < 0.01 for lactation I andP 0.05 for lactations II and III), whereas A/B cows showed higher milk fat content than A/A individuals (P < 0.05 for lactations I and II, andP < 0.01 for lactation III). The A/A cows yielded more fat than A/B individuals (P < 0.01 only in lactation I). The A/A cows yielded more milk protein than A/B individuals (P < 0.01 for lactations I, II, and III). The A/A cows produced milk of higher protein content than of A/B individuals (P < 0.05 only in lactation II). 相似文献
14.
Association between BoLA and subclinical bovine leukemia virus infection in a herd of Holstein-Friesian cows 总被引:4,自引:0,他引:4
The role of the bovine major histocompatibility system (BoLA) in subclinical bovine leukemia virus (BLV) infection was investigated in a herd of Holstein-Friesian cows (n=240). The BoLA W8.1 allele was negatively associated with the presence of antibodies to the major BLV envelope glycoprotein, BLV-gp51 (corrected P<0.001, relative risk =0.31). These results suggest that a BoLA-linked gene(s) may influence the early spread of BLV infection. Since B cells are the primary target of BLV infection, we then determined the relationship between BoLA-A locus phenotypes and B-cell numbers in peripheral blood of seropositive and seronegative cows. There were no significant differences between BoLA-A alleles for any hematological parameter in seronegative cows. Seropositive cows with the W12.1 allele had significantly greater absolute numbers of lymphocytes per microliter and B cells per microliter than did seropositive cows with other BoLA-A phenotypes (P<0.01, respectively). The average effect associated with the W12.1 allele in BLV-infected cows was an increase of 2010 B cells per microliter of whole blood relative to BLV-infected cows with other BoLA-A phenotypes. These results demonstrate that susceptibility to the polyclonal expansion of BLV-infected B lymphocytes is associated with the W12.1 allele in Holstein-Friesian cattle. Compared with results of a previous study in a herd of Shorthorn cattle, it appears that resistance and susceptibility to subclinical progression of BLV infection are associated with different BoLA-A locus alleles in different cattle breeds.Abbreviations used in this paper AGID
agar gel immunodiffusion
- BLV
bovine leukemia virus
- BoLA
bovine lymphocyte antigen
- EBL
enzootic bovine leukosis
- HLA
human leukocyte antigen
- MHC
major histocompatibility complex
- PL
persistent lymphocytosis 相似文献
15.
J. Wang Z. J. Li X. Y. Lan L. S. Hua Y. T. Huai Y. Z. Huang L. Ma M. Zhao Y. J. Jing H. Chen J. Q. Wang 《Molecular biology reports》2010,37(1):571-577
As a zinc-finger protein, PR domain containing 16 (PRDM16) controls brown fat determination by stimulating brown fat-selective genes expression while suppressing the expression of genes selective for white fat cells, whose mutations were associated with myelodysplastic syndrome (MDS) and leukemogenesis in human and murine model of leukemia. To date, no polymorphisms of PRDM16 gene in bovine had been reported. Herein, PCR-SSCP and DNA sequencing methods were employed to screen the genetic variation within PRDM16 gene in 1031 Chinese indigenous bovine. The results revealed two novel silent mutations: XM_001788152: m.1641T>C (547aa), 1881G>A (627aa). Hence, we described the PvuII and HaeIII forced PCR–RFLP methods for detecting these mutations, respectively. In the forced PCR–RFLP analysis with PvuII, the frequencies of bovine PRDM16-C allele varied from 0.044 to 0.506 in four Chinese native breeds. In the forced PCR–RFLP analysis with HaeIII, the frequencies of bovine PRDM16-G allele were 0.474, 0.494, 0.576 and 0.906 for Jiaxian (JX), Nanyang (NY), Qinchuan (QC) and Chinese Holstein (CH) population. Significant statistical differences between genotypic frequencies implied that both of the polymorphic loci were significantly associated with cattle breeds by the chi square test (χ2 = 190.058, P < 0.001 and χ2 = 118.239, P < 0.001 for PvuII; χ2 = 209.842, P < 0.001 and χ2 = 108.711, P < 0.001 for HaeIII). The associations of the PvuII and HaeIII forced PCR–RFLPs of bovine PRDM16 loci with growth traits were analyzed in Nanyang breed. The two SNPs were associated with body weight and average daily gain in Nanyang aged 12 months, individuals with genotype TT and AA showed significantly better body weight (P < 0.05) and average daily gain (P < 0.01) at 12 months, respectively. 相似文献
16.
Ohnishi M Sawada T Marumo K Harada K Hirose K Shimizu A Hayashimoto M Sato R Uchida N Kato H 《Letters in applied microbiology》2012,54(6):572-576
Aims: To evaluate the antimicrobial susceptibility and genetic relatedness of 11 Stenotrophomonas maltophilia isolates from an outbreak of bovine clinical mastitis in one herd and two isolates from two separate mastitis cases in two other herds. Methods and Results: Thirteen S. maltophilia isolates were obtained from milk samples from 11 cows from three dairy herds in Japan during 2008. We tested their susceptibility to 14 antimicrobials by broth microdilution and identified their genotypes by enterobacterial repetitive intergenic consensus 2 (ERIC2)‐PCR. Every cow had acute mild mastitis (slightly watery foremilk with flakes) without systemic symptoms and all resolved within 3–5 weeks of diagnosis. Eleven of the 13 isolates derived from nine cows in one herd over a 7‐month period exhibited a closely related ERIC2 type (A). The remaining two isolates derived from two cows from two other herds exhibited two distinct ERIC2 types (B and C). Most of the 13 isolates exhibited susceptibility to trimethoprim‐sulfamethoxazole, chloramphenicol, minocycline and levofloxacin; however, they were resistant to four β‐lactams, kanamycin, gentamicin and oxytetracycline. They were intermediate to enrofloxacin. Conclusions: Eleven closely related S. maltophilia isolates were involved in a herd outbreak of mastitis to some extent. Bovine S. maltophilia isolates exhibited resistance to many classes of antimicrobials. Significance and impact of study: This is a rare report of a herd outbreak of bovine mastitis involving closely related S. maltophilia isolates. 相似文献
17.
Ib Christian Klausen Peter Steen Hansen Lars Ulrik Gerdes Niels Rüdiger Niels Gregersen Ole Faergeman 《Human genetics》1993,91(2):193-195
Lipoprotein(a) [Lp(a)] is a low density lipoprotein (LDL), in which apolipoprotein B-100 (apo B-100) is attached to apolipoprotein(a) [apo(a)], a glycoprotein of variable size. Lp(a) may be as atherogenic as LDL. In normal populations, Lp(a) concentrations in plasma are largely determined by the apo(a) gene locus on chromosome 6, but regulation of synthesis and catabolism of Lp(a) is poorly understood. In some studies, a PvuII restriction fragment length polymorphism (RFLP) in the LDL receptor gene seems to affect concentrations of LDL in plasma, and other studies have indicated that Lp(a) catabolism could be mediated by the LDL receptor. We therefore expected that the PvuII polymorphism in the LDL receptor gene might be associated with Lp(a) levels in 170 Caucasian men aged 40 years, selected to have a high representation of low molecular weight apo(a) phenotypes. However, plasma concentrations of cholesterol, LDL-cholesterol, HDL-cholesterol, triglycerides and Lp(a) were all unrelated to the LDL receptor gene PvuII polymorphism both in the group as a whole and when it was subgrouped by apo(a) phenotype. Therefore our data do not support the concept that this particular LDL receptor gene polymorphism is associated with LDL receptor function, and our data therefore neither support nor rule out a role for the LDL receptor in Lp(a) catabolism. 相似文献
18.
Ayfer Pazarbasi M. Bertan Yilmaz Davut Alptekin Umit Luleyap Zuhtu Tansug Lutfiye Ozpak Muzeyyen Izmirli Dilge Onatoglu-Arikan Sabriye Kocaturk-Sel Mehmet Ali Erkoc Ozgur Turgut Ceyhun Bereketoglu Erdal Tunc Eylul Akbal 《Indian journal of human genetics》2013,19(4):408-411
OBJECTIVES:
Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha (ESR1) and catechol-O-methyltransferase (COMT) genes and the risk of developing familial prostate carcinoma.MATERIALS AND METHODS:
In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes.RESULTS:
Among control patients, the ESR1 PvuII genotypes of C/C, C/T and T/T were observed in 37%, 26% and 37%, respectively, whereas the C/C, C/T and T/T genotypes were observed in 18%, 41% and 41% of case patients, respectively. Among controls, the ESR1 PvuII allele frequencies of C and T were equally observed, whereas the C and T allele frequencies were observed in 38% and 62% of patients, respectively. Among ESR1 PvuII genotypes there were not any significant difference in terms of genotype (P = 0.199) and allele (P = 0.181) frequencies. Among controls, the ESR1 XbaI genotypes of G/G, G/A and A/A were observed in 33%, 37% and 33%, respectively, whereas the G/G, G/A and A/A genotypes were observed in 12%, 47% and 41% of patients, respectively. Among controls, the ESR1 XbaI allele frequencies of A and G were observed equally, respectively, whereas the A and G frequencies were observed in 65% and 35% of patients, respectively. Among ESR1 Χ baI, there was not any significant difference in terms of genotype (P = 0.111) and allele (P = 0.093) frequencies. But the C/C genotype of the PvuII site and G/G genotype of the XbaI site in the ESR1 gene were associated significantly with the risk of developing prostate carcinoma. The G/G, G/A and A/A genotypes of the COMT gene were observed in 50%, 29% and 21% of control patients and in 53%, 21% and 26% of case patients, respectively. The A and G allele frequencies of the COMT gene were observed in 36.7%, 63.3% of control patients and in 36.8%, 63.2% of case patients, respectively. In COMT gene, there was not any significant difference in terms of genotype (P = 0.843) and allele (P = 0.991) frequencies. But the G/A genotype of the COMT gene had a weak tendency toward increased risk.CONCLUSION:
Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma. 相似文献19.
M. Macek Jr. Milan Macek Sr. Alice Krebsová E. Nash A. Hamosh André Reis Raymonda Varon-Mateeva Nancy E. Maestri Karl Sperling Michael Krawczak G. R. Cutting J. Schmidke 《Human genetics》1997,99(5):565-572
Cystic fibrosis (CF) patients show a high degree of linkage disequilibrium between the CF transmembrane conductance regulator
(CFTR) gene and polymorphisms 5′ of that gene. To determine whether the region 5′ of CFTR contains biologically important sequences, the allele frequencies of six CFTR-linked polymorphisms (metH/MspI, XV-2c/TaqI, CS.7/HhaI, KM19/PstI, MP6-d9/MspI, J44/XbaI) were determined in 417 randomly selected elderly individuals (over 75 years of age) from the Czech population. The elderly
individuals were considered “escapees” of strong selective pressures that had operated during their lifetime, prior to the
introduction of modern health care since 1950. The pooled allele frequencies of the analyzed marker polymorphisms in the elderly
did not significantly differ from published data. However, when analyzed by sex, the allele frequencies of markers CS.7/HhaI and KM19/PstI differed significantly (P < 0.05) between elderly females and males. The allele frequencies of the six polymorphisms were then determined in 646 newborns
and 345 young adults of reproductive age; these individuals were selected in a similar manner and drawn from the same population.
In these control groups, the studied marker polymorphisms exhibited no statistically significant differences between sexes
and/or between individuals of the same sex, only between different age groups. A gradual relative increase in the frequency
of allele “2” of marker CS.7/HhaI was observed from newborn females to elderly women, the overall difference in allele frequencies of this marker polymorphism
between newborn females and elderly women reaching statistical significance (P < 0.05). Interestingly, allele “2” is the major constituent of the extended “B-haplotype”, which is in strong linkage disequilibrium
with common CF alleles. Taken together, our data suggest that the region spanning markers CS.7 and KM19 is associated with
a genetic factor that influences postnatal female survival, providing a possible mechanism for increasing the frequency of
particular mutations in the adjacent CFTR gene.
Received: 30 January 1996 / Revised: 16 December 1996 相似文献
20.
TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia 总被引:1,自引:1,他引:0
Kimiko Yamakawa Takaaki Okafuji Yukio Iwamura Kenji Yuzawa Juichi Satoh Naoko Hattori Yasuko Yamanouchi Hisako Yanagi Koichi Kawai Shigeru Tsuchiya David W. Russell Hideo Hamaguchi 《Human genetics》1988,80(1):1-5
Summary The low density lipoprotein (LDL) receptor gene was analyzed in 67 unrelated healthy Japanese and 38 members of six consecutive families with familial hypercholesterolemia (FH) by Southern blot hybridization with TaqI, an LDL receptor cDNA fragment containing exons 1 to 8 being used as a probe. A new TaqI RFLP at the LDL receptor locus was detected with allele frequencies of 0.67 and 0.33. The data obtained with smaller cDNA subfragment probes revealed that the TaqI RFLP site is located within 1.1 kb of the 5 side of the EcoRI site of exon 5. The TaqI RFLP was in linkage disequilibrium with the PstI RFLP but showed no significant linkage disequilibrium with the RFLPs for AvaII, ApaLI/I15, PvuII, NcoI, and ApaLI/3. Among the seven RFLPs at the LDL receptor locus, the TaqI RFLP was the only useful genetic marker in one of the six families with FH. Furthermore, the association of an additional TaqI 1.5-kb band with a mutant LDL receptor gene was observed in another family with FH in which the proband was homozygous for all of the seven RFLPs. The data obtained with various restriction enzymes and smaller cDNA subfragments probes suggested that a minor change in nucleotide sequences in the region including exons 5 to 8 is present in the mutant gene. These data suggest that the TaqI RFLP is a useful genetic marker at the LDL receptor locus and that TaqI serves for the analysis of some mutant LDL receptor genes, when used with small LDL receptor cDNA probes. 相似文献