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PubMed1976

Heterozygous and homozygous factor XI defect in consanguineous family.

A woman with symptoms of prolonged post-traumatic bleeding was found to have a severe defect of factor XI, and was thought to be homozygously affected. Both her parents, who were first cousins, and all her three children, though asymptomatic, showed a moderate defect and appeared to be heterozygous. Both her parents' factor XI levels were about twice those in her children, and this was thought to be an age effect.

Age Factors↗
PubMed1999

[Regulatory problems regarding bone marrow transplantation from non-consanguinous donors].

The paper reports the normative rules and the Italian Ministry of Health administrative instructions concerning the bone marrow unrelated donor (MUD) search in the Italian Bone Marrow Donor Registry (IBMDR) and in international registries from the preliminary activation to a MUD bone marrow transplant (BMT), when a volunteer donor, perfectly compatible with a recipient lacking a HLA identical sibling, is found. The article describes all the expenses pertinent to the different stages of search and the documents necessary to obtain the reimbursement of these expenses. A very recent Ministry Decree establishing that all the search costs will be charged to the competent local sanitary authority is added.

Bone Marrow Transplantation↗
PubMed2001

Isonymy, consanguinity and repeated pairs of surnames in Aromun populations.

The Aromuns represent a small and almost unknown people that live scattered over the Balkan Peninsula. Due to their language, that is very similar to classical Latin, they are in a special position. The Aromuns settled only in more recent times. Until now they lived as shepherds, as caravan guides and merchants and lead a semi-nomadic life. We are currently carrying out studies to determine the genetic structure of this population. To facilitate the interpretation of these data, we are also trying to obtain other important parameters that pertain to migration processes and the genealogical structure of this populations. The data arise from three areas in Albania, the Republic of Macedonia and Romania. The inbreeding coefficient and the proportion of repeated pairs of surnames was calculated through the use of genealogies and the isonymy method. The difference between these three populations are due primarily to confounding by selection of mates and family composition.

Albania↗
PubMedDate not supplied

Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.

We report a Chinese family in which two family members were diagnosed to have steroid 5alpha-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated micropenis. Mutational analysis revealed a homozygous mutation in exon 4 of the SRD5A2 gene, changing codon 227 from CGA to CAA, i.e. R227Q. The paternal granduncle of the proband has incomplete virilization in adulthood. Besides having the mutation R227Q, he has another mutation in exon 5 of the SRD5A2 gene, changing codon 246 from CGG to CAG, i.e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5alpha-reductase 2 deficiency with identified molecular defects.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed2002

[Studies of the phenotypic character and consanguinity of isozymes in species and population].

Using discontinuous polyacrylamide gel electrophoresis and histochemistry methods, lactate and esterase isozyme of three species and five popalation of Lacertiformes were analysed. The interspecific zymogramatic differences are obvious. Each species possesses its specific zymogram. According to the zymogramatic similarity among these species calculated with the method of polar ordination,they can be grouped into 2 categories. Gekko chinensis and the two population of Gekko subpalmatus fall into one category. The second category contains the two population of Hemidactylus bowringii. The congsanguinity of the species and popalation has been drawn from the results.

English Abstract↗