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Lotte Henke

Publications and source records attributed to Lotte Henke.

10 recordsLinked to original sources
PubMed2006

Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations.

Haplotype frequencies for 11 Y-STR markers (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438 and DYS439) in a Romani population (n=63) from Slovakia, Jats of Haryana (n=84) and Jat Sikhs (n=80) from India were determined. The Slovakian Romani, the Haryana and Sikh populations were endogamous based on their unique haplotype ratio and haplotype diversity values, although the Sikh population appeared to be more diverse. AMOVA revealed non-significant differences between the Romanies and significant differences with non-Romani populations. The Macedonian Romani population differed from all Romani populations examined. Frequent haplotypes observed in Romani populations were sporadic in northwest Indian populations. Thirteen out of 316 populations worldwide were found to share the six most frequent haplotypes of the Slovakian Romanies when the screening conditions were narrowed based on the population size to be over 40, the occurrence of the haplotypes was more than one and the sum frequencies of the most frequent haplotypes was at least 0.02. The most common haplotypes were also observed in other Romani groups. When searching with two Indian (Malbar and Malaysian Indian) most frequent haplotypes under the same conditions matches could be detected in all Romani populations except for the Macedonian Romanies. The search with the Jat Sikhs and Jats of Haryana most frequent haplotypes resulted no matches in Romani populations.

Chromosomes, Human, Y↗
PubMed2006

The structure and diversity of alpha1-acid glycoprotein/orosomucoid gene in Africans.

Human orosomucoid (ORM), or alpha(1)-acid glycoprotein, is known to be controlled by duplicated and triplicated genes on chromosome 9, encoding ORM1 and ORM2 proteins. In this study, the structure and diversity of the ORM gene were investigated in 16 Sub-Saharan Africans, who originated from widely dispersed locations in Africa. The duplicated ORM1-ORM2 gene was observed in all 16 samples. ORM1*S1(2), characterized by an ORM2 gene-specific sequence in intron 5, was common in Africans. Three Africans showed the duplication of the ORM1 gene. The organization of the triplicated ORM1A-ORM1B-ORM2 gene was established in two Africans. The recombination breakpoints resulting in the ORM1 duplication lay within a small genomic interval around exon 1 of the ORM1B gene. The duplication of the ORM2 gene reported previously was not detected in this population sample. Several single-nucleotide polymorphisms were observed in the ORM2 gene. The rearrangement of the ORM gene is likely to occur often in Africans.

Alu Elements↗
PubMed2005

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis.

To test for human population substructure and to investigate human population history we have analysed Y-chromosome diversity using seven microsatellites (Y-STRs) and ten binary markers (Y-SNPs) in samples from eight regionally distributed populations from Poland (n = 913) and 11 from Germany (n = 1,215). Based on data from both Y-chromosome marker systems, which we found to be highly correlated (r = 0.96), and using spatial analysis of the molecular variance (SAMOVA), we revealed statistically significant support for two groups of populations: (1) all Polish populations and (2) all German populations. By means of analysis of the molecular variance (AMOVA) we observed a large and statistically significant proportion of 14% (for Y-SNPs) and 15% (for Y-STRs) of the respective total genetic variation being explained between both countries. The same population differentiation was detected using Monmonier's algorithm, with a resulting genetic border between Poland and Germany that closely resembles the course of the political border between both countries. The observed genetic differentiation was mainly, but not exclusively, due to the frequency distribution of two Y-SNP haplogroups and their associated Y-STR haplotypes: R1a1*, most frequent in Poland, and R1*(xR1a1), most frequent in Germany. We suggest here that the pronounced population differentiation between the two geographically neighbouring countries, Poland and Germany, is the consequence of very recent events in human population history, namely the forced human resettlement of many millions of Germans and Poles during and, especially, shortly after World War II. In addition, our findings have consequences for the forensic application of Y-chromosome markers, strongly supporting the implementation of population substructure into forensic Y chromosome databases, and also for genetic association studies.

Chromosomes, Human, Y↗
PubMed2005

Which short tandem repeat polymorphisms are required for identification? Lessons from complicated kinship cases.

This paper presents 5 examples of complicated deficient parentage cases, which were sufficiently resolved by extensive DNA typing using short tandem repeat (STR) and restriction fragment length polymorphisms (RFLPs). The latter have greatly contributed to the solution of deficiency cases, although their application is only feasible, if high molecular weight DNA and time are in abundance. This apart, RFLP technique is available in a few laboratories only, and its extinction can be expected in medium term. This development will pose a problem unless more highly polymorphic STR systems are at the service of forensic genetic laboratories. The required "new" additional STR polymorphisms must be able to fully replace RFLPs in terms of their respective information content. STR loci of this quality are e.g. ACTBP2 (SE33), D5S2360, and gonosomal loci. Moreover, the newly introduced STR kit "Humantype Chimera" is considered valuable from this point of view.

Family↗
PubMed2004

Long-term results of allogeneic penetrating limbo-keratoplasty in total limbal stem cell deficiency.

OBJECTIVE: To determine the prognosis of allogeneic penetrating limbo-keratoplasty in patients with total limbal stem cell deficiency and to find out if donor limbal stem cells survive in the long run. DESIGN: Noncomparative prospective case series. PARTICIPANTS: Forty-eight patients with total limbal stem cell deficiency. INTERVENTION: Allogeneic penetrating limbo-keratoplasty. All patients received systemic cyclosporin A and/or mycophenolate mofetil in the postoperative course. Thirteen patients received grafts with 0 to 1 HLA mismatches in the HLA-A, HLA-B, and HLA-DR loci; 13 patients received grafts with 2 to 6 mismatches; and 22 patients received untyped grafts. MAIN OUTCOME MEASURES: Long-term clear graft survival and survival of donor limbal stem cells. RESULTS: Five years postoperatively, 65% of the grafts with 0 to 1 mismatches, 41% of the grafts with 2 to 6 mismatches, and 14% of the untyped grafts were clear centrally (estimation according to Kaplan-Meier log rank test, P = 0.03). Immunogenetic analysis of epithelial cells from the surface of the graft could be performed successfully in 7 of 9 patients and revealed donor DNA in the epithelium of 5 of these 7 patients up to 56 months postoperatively. CONCLUSIONS: Long-term survival of donor epithelium could be demonstrated immunogenetically in patients undergoing allogeneic penetrating limbo-keratoplasty. Human leukocyte antigen-matched grafts seem to deliver better results than untyped grafts. Progress with matching and immunosuppressive strategies may further improve current results.

Adult↗
PubMed2004

Penetrating limbo-keratoplasty for granular and lattice corneal dystrophy: survival of donor limbal stem cells and intermediate-term clinical results.

PURPOSE: To assess clinical follow-up data, and to identify donor epithelial cells after homologous penetrating central limbo-keratoplasty in patients with granular and lattice corneal dystrophies compared with patients who underwent conventional penetrating keratoplasty (PK). DESIGN: Mixed retrospective and prospective nonrandomized comparative case series. PARTICIPANTS AND CONTROLS: Twenty-six patients who underwent 33 limbo-keratoplasty procedures for granular or lattice corneal dystrophy since May 1995 and a historical control group of 24 patients who underwent 36 PK procedures between November 1986 and May 1995. METHODS: Postoperatively, all but 2 limbo-keratoplasty patients were treated with systemic immunosuppressants for 6 months. All patients received long-term topical immune prophylaxis with prednisolone-21-acetate 1% (2 drops per day). After obtaining informed consent, epithelial cells were harvested from 10 limbo-keratoplasty eyes of 8 patients with granular dystrophy and 7 limbo-keratoplasty eyes of 7 patients with lattice dystrophy. Conjunctival epithelium or buccal mucosal epithelium for recipient identification and corneal epithelial cells from 3 graft sites were harvested. Deep-frozen donor corneoscleral rims were analyzed to characterize donor features. Genetic analysis was performed by polymerase chain reaction of short tandem repeat (STR) loci. MAIN OUTCOME MEASURES: The ratio of dystrophy recurrences in the graft was clinically assessed. Donor features in epithelial cells were genetically established if at least 1 STR profile differed from that of the recipient. RESULTS: There were 5 recurrences in limbo-keratoplasty eyes with granular dystrophy and 2 recurrences in limbo-keratoplasty eyes with lattice dystrophy, compared with 15 and 6 recurrences in PK eyes, respectively. The differences between limbo-keratoplasty and PK were not statistically significant over time (log-rank test; P = 0.14 for granular dystrophy and P = 0.56 for lattice dystrophy; alpha error, 0.05). For genetic analysis, 12 of 17 samples were evaluated. Donor epithelial cells were detected in 5 of the 12 samples (42%). CONCLUSIONS: Limbo-keratoplasty tended to be associated with fewer recurrences of granular and lattice dystrophies. However, the difference was not yet statistically significant, probably due to the disappearance of the transplanted limbal stem cells over time. Genetic analysis confirmed the survival of transplanted limbal stem cells over several years in some limbo-keratoplasty eyes, which might correlate with less recurrence. Limbo-keratoplasty, therefore, is likely to represent a first step towards long-term recurrence-free survival of corneal grafts in patients with granular and lattice dystrophies.

Adolescent↗
PubMed2004

Molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms in introns.

The two polymorphic alleles of esterase D (ESD), ESD*5 and ESD*7, are specific to Europeans and Asians, respectively. In this study the molecular basis was characterized: ESD*5, arising from ESD*1, has a G to A transition, resulting in Gly257(GGT) --> Asp(GAT); and ESD*7, originating from ESD*2, has an A to G transition, resulting in Asp231(GAT) --> Gly(GGT). Glycine is also involved in the common ESD*1/ESD*2 polymorphism [Gly190(GGA) --> Glu(GAA)]. Haplotype analysis using a few novel intragenic polymorphisms showed strong associations among polymorphic sites, suggesting that recombination has been less frequent in the human ESD gene, although it spans about 25 kb from exon 1 to exon 10. A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese.

Animals↗
PubMed2003

Asian online Y-STR Haplotype Reference Database.

For several years Y-chromosomal microsatellites (short tandem repeats, STRs) have been well established in forensic practice. In this context, the genetic characteristics of the Y chromosome (i.e. its paternal inheritance and lack of recombination) render STRs particularly powerful. However, genetic differences between male populations appear to be larger for Y-STRs than for autosomal STRs, a fact that is most likely due to the higher sensitivity of Y-chromosomal lineages to genetic drift (Forensic Sci Int 118 (2001) 153). The assessment of probabilities for matches between haplotyped male persons or traces/persons requires the typing of a large number of haplotypes in the appropriate reference populations. The haplotype data of a large number of European as well as South and North American populations have been collected and are continuously published online (Y-STR Haplotype Reference Database--YHRD; http://www.ystr.org). The most recent multicentric effort has led to the establishment of an Asian YHRD (http://www.ystr.org/asia) which has been available since January 2002. All databases are maintained and curated at the Institute of Legal Medicine, Humboldt-University, Berlin and will soon be fused to a global repository including populations from all continents.

Asia↗
PubMed2002

A comprehensive analysis of recently integrated human Ta L1 elements.

The Ta (transcribed, subset a) subfamily of L1 LINEs (long interspersed elements) is characterized by a 3-bp ACA sequence in the 3' untranslated region and contains approximately 520 members in the human genome. Here, we have extracted 468 Ta L1Hs (L1 human specific) elements from the draft human genomic sequence and screened individual elements using polymerase-chain-reaction (PCR) assays to determine their phylogenetic origin and levels of human genomic diversity. One hundred twenty-four of the elements amenable to complete sequence analysis were full length ( approximately 6 kb) and have apparently escaped any 5' truncation. Forty-four of these full-length elements have two intact open reading frames and may be capable of retrotransposition. Sequence analysis of the Ta L1 elements showed a low level of nucleotide divergence with an estimated age of 1.99 million years, suggesting that expansion of the L1 Ta subfamily occurred after the divergence of humans and African apes. A total of 262 Ta L1 elements were screened with PCR-based assays to determine their phylogenetic origin and the level of human genomic variation associated with each element. All of the Ta L1 elements analyzed by PCR were absent from the orthologous positions in nonhuman primate genomes, except for a single element (L1HS72) that was also present in the common (Pan troglodytes) and pygmy (P. paniscus) chimpanzee genomes. Sequence analysis revealed that this single exception is the product of a gene conversion event involving an older preexisting L1 element. One hundred fifteen (45%) of the Ta L1 elements were polymorphic with respect to insertion presence or absence and will serve as identical-by-descent markers for the study of human evolution.

Animals↗