https://www.le.ac.uk/ge/maj4/SurnamesForWeb.pdf

In the name of the father: surnames and genetics

Since 1985, when a bibliography concerning studies on surnames and genetic structure appeared, the number of publications on this subject has increased a thousandfold. New topics and uses have been added, but large gaps in knowledge remain. Only studies on isonymy in cities of nation states for recent times are well covered, and most studies are on populations that were selected because they are isolated and not because they are typical. This review, although not exhaustive, covers the literature published since 1985.

https://www.jstor.org/stable/pdfplus/41466196.pdf

Use of surname models in human population biology: a review of recent developments.

Three cases of inherited satellited Y chromosomes (Yqs) were analysed using several cytogenetic techniques. The cytogenetic data of the 14 cases of Yqs chromosomes described to date were reviewed. All Yqs chromosomes carry an active nucleolus organizer region (NOR) in their long arm and must have developed from translocations involving the short arms of the acrocentric autosomes. The structure of the heterochromatic satellite region in the Yqs chromosomes shows conspicuous inter-familial differences; this permits the reconstruction of the translocations from which the various Yqs were derived. Some causal factors leading to the development of Yqs chromosomes are considered: the specific localization of the four satellite DNAs and highly methylated DNA sequences in the karyotype, and some new experimental data on the spatial arrangement of heterochromatic regions in interphase nuclei. These provide distinct evidence for a preferential involvement of the autosomes 15 and 22 in the translocations with the Y heterochromatin. All clinical reports documenting Yqs males born with malformations were reviewed. It appears that the presence of an extra NOR and NOR-associated heterochromatin in the Yqs chromosomes does not cause any phenotypic abnormalities (as long as the Y euchromatin is intact). The possibility that a Yqs chromosome predisposes to non-disjunction and/or to translocations of other chromosomes is discussed.

Satellited Y chromosomes: structure, origin, and clinical significance.

We report a case of transient myeloproliferative disorder (TMD) in a neonate without features of Down syndrome (DS) with clonal karyotype evolution, after apparent spontaneous resolution of TMD, but eventually progressing to acute megakaryoblastic leukemia (AMKL). The patient had petechiae, thrombocytopenia, and blastemia. Trisomy 21 with a satellited Y chromosome (Yqs) was found in proliferating blasts. A stimulated peripheral blood culture confirmed the constitutional origin of the Yqs, but did not reveal the presence of any trisomic 21 cell. By the age of 3 months, clonal chromosome evolution in the form of an interstitial deletion of the long-arm of chromosome 13 [del(13)(q13q31)] was detected along with trisomy 21 in unstimulated bone marrow cultures. However, remission was achieved without treatment at the age of 4 months. Trisomy 21 and del(13)(q13q31) were not identified in either cytogenetics or fluorescence in situ hybridization studies at that time. The child was asymptomatic until the age of 20 months when anemia and thrombocytopenia prompted a bone marrow biopsy, revealing changes consistent with AMKL. The remission proceeded by clonal karyotype evolution in a neonate with TMD demonstrates that clonal karyotype evolution does not indicate an immediately progressive disease. However, the development of AMKL after TMD in this case illustrates the increased risk for leukemia in TMD cases, even without DS. The gradual clonal evolution of the blasts in our patient suggests that "multiple hits" oncogenesis applies to TMD progression to acute leukemia.

Acute Megakaryoblastic Leukemia After Transient Myeloproliferative Disorder With Clonal Karyotype Evolution in a Phenotypically Normal Neonate

Most people get their surnames from their fathers. The surnames therefore well exhibit patrilineal heredity. Strict patrilineal heredity is also obeyed by parts of our genome, the Y chromosome non-recombinating portion. Therefore, men sharing a surname are expected to have similar Y chromosomes. However, association between surnames and Y chromosomes is always weak or absent due to the complicated social behaviors of surnames, e.g., various founders for a surname, surname changing, and non-paternity events. To set up better association, the family genealogies in combination with Y chromosomes should be used in historical anthropology studies. Two kinds of markers on Y chromosomes, single nucleotide polymorphism (SNP) and short tandem repeat (STR), are widely used in setting up the Y chromosome genealogy and estimate the time. Y chromosome studies show strong power in resolving many doubtful cases existing for hundreds of years. Application of Y chromosome analyses in the family genealogy studies will be a most important part of historical anthropology researches.

Surnames and the Y Chromosomes

A large pedigree with a satellited Yq chromosome is described, Q, C, and NOR banding were performed. Family C proband suffers from a Klinefelter syndrome.

Mónica Guzmán

Papers

A family with a satellited Yq chromosome.