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Sickle-cell disease—a milder form in india?
ABSTRACTS O F ANNUAL SCIENTIFIC MEETING curves following U V radiation were performed in 27 normal individuals. 10 children with cancer and 22 adults with cancer. No clear-cut evidence for a defect of DNA repair was found in any of the patients studied. UTILIZATION OF IMMUNOGENETICS AND CYTOGENETICS IN THE DIAGNOSIS OF LEUKEMIAS AND LYMPHOMAS BARBARA K. HECHT,& FREDERICKHECHT The Generics Cenrc~r. Soirtli west Urot~idrcalRtwarch Institutr~,Tempe. .4riiona 85281. l'.S..4. Specific chromosome abnormalities are found in specific tumors. I n lymphoid cancers 2 chromosomes tend preferentially to be rearranged: chromosomes 8 and 14. ( I ) Burkitt's lymphomas (B-cell): There is a consistent breakpoint at 8q23 with translocation of the distal portion usually to 14q32 or less frequently to other chromosomes. ( 2 ) Diffuse histiocytic lymphomas (DHL): We have studied 15 DHL cell lines. Eleven DHL lines of B-cell origin had rearrangement of chromosome 14 while 4 others (2 histiocytic and 2 null cell) did not. ( 3 ) Othery lymphoid tumors: Rearrangements of chromosome 14 at band 14q32 have been observed in certain T-cell leukemias and lymphomas. How can these observations be reconciled? We propose that the 8q23 breakpoint is concerned with the transformation of a B-cell into a malignant cell and the 14q32 breakpoint more generally modulates the growth potcntial of lymphoid cells. SICKLE-CELL DISEASE-A MILDER FORM IN INDIA? R. L. KIRK & H. SUDARSHAN Ifuman Biologv Department, J . C.S.,\i'. R., Canherra During the last 20 yr we have determined the frequency of persons with HbS in a number of tribal populations in south India. Frequencies range from zero in the Kota to approximately 30% among the Irula, Paniyar and Soliga. Recently it has been claimed' that sickle-cell disease in India is a mild disorder which is never fatal and that this is related to the number of alpha-globin genes present in persons with HbS. We shall present data on the age distribution of homozygous HbS in some tribal populations in India which show that few homozygous individuals survive to adulthood and that clinical symptoms are frequently similar to those reported in Africa.
Reference I
Brirlcnham. el nl Amcr
J Hematol
1V79:6:107-?3.
107
The aims of a system set up to provide this information are: I . To monitor trends in the number of tests performed nationally 2. To complement the existing reporting system for congenital malformations so that ascertainment is improved 3. To evaluate the impact of antenatal diagnosis on the incidence of congenital malformations 4. To publish quarterly reports on antenatal diagnosis in conjunction with congenital malformations monitoring reports. I t is proposed that laboratories send quarterly summary repons of tests performed and brief case reports of abnormal results to the National Perinatal Statistics Unit. These reports would give information about antenatal tests for chromosomal abnormalities and malformations of the central nervous system and about chromosomal abnormalities in infants. Wide distribution of quarterly monitoring reports should ensure more informed policy-making and also publicity about the availability of antenatal diagnostic services. Fra(X) (q27) IN FIBROBLASTS MARGARETLEVERSHAC)vogenetrcs Laborarorj,. Deparrtnmt (!I Gcnetic~s.R o J d Children's Hospital, Parkvillr. I'rctorra The detection of the fra(X) (q27) in lymphocytes is now a routine procedure in most laboratories. but fibroblasts have not yct proved as amenable. The major difficulty appears to be in reproducing results consistently for any particular patient. Evidence is presented to indicate that this may, in part. be related to sampling time after exposure to the appropriate 'triggering' conditions. Data has been compiled from a series of investigations on the fibroblasts of 6 known carriers of the fra(X) (q27)-4 males. 2 females from 4 unrelated families, as well as another female whose fra(X) (q27) status is unclear. DE NOVO TRANSLOCATION OF CHROMOSOMES 14 AND 18, RESULTING IN AN 18q DELETION PHENOTYPE A. MANUEL.G. COHEN.M . COHEN.K. FAGAN& W. GRIGOR* Foirndation 41. The Wbrnen's Hospital (Crown 3).Sydney and *Roj,al .-llcrandra Hmprtal ,for Children, Catnperdown. Neu' Soirth M h/c.\ In the course o f a cytogenetic survey of newborns a 14/18 translocation karyotype was detected. Talipes was recorded as the only clinical anomaly at the time of birth. Cytogenetic investigations revealed the karyotypc: 45,XY.- 14, -18,+t(14:18) (14qter 14pter::18q22.3 Ilpter). G.C and AgNOR banding demonstrated a deletion of the terminal band 18q23. Both parcnts had normal karyotypes.
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PRENATAL DIAGNOSIS OF 'MONOSOMY 21 '-A CASE OF MISTAKEN IDENTITY E. J. M. KRUMINS.M. PHILLIPS.*J. BERKOWITZ,S. EICHENBAUM & S. PROBERT Cy/i~genc/icsLaborator): Pathology Deparfmenf,The Rojnl H 'omen's Hospital, Curlton. Victoria and *Department of Genrirc~.~. t'nrwrsrrj*q i ,kfelhourne. Parh-ville, Victoria Routine cytogenetic analysis of fetal cells from a 42-yr-old gave the karyotype, 45, XX. -G. G-banding suggested 45. XX, -21. Both parents appeared karyotypically normal. Examination of the fetus at necropsy revealed very few phenotypic abnormalities. Assay of superoxide dismutase. which has been mapped to chromosome 21, produced normal activity. Further cytogenetic studies, using RBG (reverse bands by Bromodeoxyuridinc using Giemsa), revealed a balanced paternal translocation.
COMPLETE DELETION OF HETEROCHROMATIN OF THE Y CHROMOSOME IN AN AZOOSPERMIC MALE A . MANUEL.G. COHEN.M. COHEN.K. FAGAN& H. GRUNSTEIN* Foirndatron 41. The Iibinrn's Hospital (Crown St). Svdnej. and *(;ur~anItistrturc q/'.I/edic~alResearch. St i'inwni j. flosprrul. Svdnej. A dcleted Y chromosome was detected in a patient presenting for infertility. The patient exhibited Klinefelter stigmata. Cytogenetic studies utilizing G. R. C. Ag-NOR and Negative Ag banding revealed a complete deletion of heterochromatin of the Y chromosome in the index patient. Other male family mcmbers investigated were found to have a normal Y chromosome. Extcnsive measurements of the deleted Y. as well as normal Y of the father and brothers wcre performed and compared. demonstrating no apparent loss of euchromatin. Using recent literature an attempt is made to map the Y chromosome.
MONITORING CHROMOSOMAL ABNORMALITIES AND ANTENATAL DIAGNOSIS PAULA. L. LANCASTERNational Perinatal Sfatistics Unit, C/niversrty c?f S1.dnc.j. Diagnostic services for chromosomal abnormalities and for antenatal detection of fetal abnormalities are expanding rapidly in Australia. Policies and practices related to serum screening and amniocentesis differ considerably from one State to another. Although experiences from individual laboratories have been reported at meetings and in publications. a continuous source of current information about these services is lacking.
GENETIC FACTORS IN SUSCEPTIBILITY TO ALCOHOL N. G. MARTIN Deparrrnent of P01~ularionBiolo'q,. Rcscwrch School r!f Biolo~yculSciences. 4ustralian h'ational l'nrvcrsrry Some people seem to become intoxicated quickly with very little alcohol, others are more resistant. Is there a genetic component in these differences in susceptibility to alcohol'? Body sway is one of the measures of psychomotor sensitivity to alcohol used in the twin study described in Dr Gibson's paper. It is found that body sway increascs under alcohol. far more in females than in males, after correction for weight and height. Within each sex there is great variation. Results of analyses will be presented to determine whether
Reference I
Brirlcnham. el nl Amcr
J Hematol
1V79:6:107-?3.
107
The aims of a system set up to provide this information are: I . To monitor trends in the number of tests performed nationally 2. To complement the existing reporting system for congenital malformations so that ascertainment is improved 3. To evaluate the impact of antenatal diagnosis on the incidence of congenital malformations 4. To publish quarterly reports on antenatal diagnosis in conjunction with congenital malformations monitoring reports. I t is proposed that laboratories send quarterly summary repons of tests performed and brief case reports of abnormal results to the National Perinatal Statistics Unit. These reports would give information about antenatal tests for chromosomal abnormalities and malformations of the central nervous system and about chromosomal abnormalities in infants. Wide distribution of quarterly monitoring reports should ensure more informed policy-making and also publicity about the availability of antenatal diagnostic services. Fra(X) (q27) IN FIBROBLASTS MARGARETLEVERSHAC)vogenetrcs Laborarorj,. Deparrtnmt (!I Gcnetic~s.R o J d Children's Hospital, Parkvillr. I'rctorra The detection of the fra(X) (q27) in lymphocytes is now a routine procedure in most laboratories. but fibroblasts have not yct proved as amenable. The major difficulty appears to be in reproducing results consistently for any particular patient. Evidence is presented to indicate that this may, in part. be related to sampling time after exposure to the appropriate 'triggering' conditions. Data has been compiled from a series of investigations on the fibroblasts of 6 known carriers of the fra(X) (q27)-4 males. 2 females from 4 unrelated families, as well as another female whose fra(X) (q27) status is unclear. DE NOVO TRANSLOCATION OF CHROMOSOMES 14 AND 18, RESULTING IN AN 18q DELETION PHENOTYPE A. MANUEL.G. COHEN.M . COHEN.K. FAGAN& W. GRIGOR* Foirndation 41. The Wbrnen's Hospital (Crown 3).Sydney and *Roj,al .-llcrandra Hmprtal ,for Children, Catnperdown. Neu' Soirth M h/c.\ In the course o f a cytogenetic survey of newborns a 14/18 translocation karyotype was detected. Talipes was recorded as the only clinical anomaly at the time of birth. Cytogenetic investigations revealed the karyotypc: 45,XY.- 14, -18,+t(14:18) (14qter 14pter::18q22.3 Ilpter). G.C and AgNOR banding demonstrated a deletion of the terminal band 18q23. Both parcnts had normal karyotypes.
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PRENATAL DIAGNOSIS OF 'MONOSOMY 21 '-A CASE OF MISTAKEN IDENTITY E. J. M. KRUMINS.M. PHILLIPS.*J. BERKOWITZ,S. EICHENBAUM & S. PROBERT Cy/i~genc/icsLaborator): Pathology Deparfmenf,The Rojnl H 'omen's Hospital, Curlton. Victoria and *Department of Genrirc~.~. t'nrwrsrrj*q i ,kfelhourne. Parh-ville, Victoria Routine cytogenetic analysis of fetal cells from a 42-yr-old gave the karyotype, 45, XX. -G. G-banding suggested 45. XX, -21. Both parents appeared karyotypically normal. Examination of the fetus at necropsy revealed very few phenotypic abnormalities. Assay of superoxide dismutase. which has been mapped to chromosome 21, produced normal activity. Further cytogenetic studies, using RBG (reverse bands by Bromodeoxyuridinc using Giemsa), revealed a balanced paternal translocation.
COMPLETE DELETION OF HETEROCHROMATIN OF THE Y CHROMOSOME IN AN AZOOSPERMIC MALE A . MANUEL.G. COHEN.M. COHEN.K. FAGAN& H. GRUNSTEIN* Foirndatron 41. The Iibinrn's Hospital (Crown St). Svdnej. and *(;ur~anItistrturc q/'.I/edic~alResearch. St i'inwni j. flosprrul. Svdnej. A dcleted Y chromosome was detected in a patient presenting for infertility. The patient exhibited Klinefelter stigmata. Cytogenetic studies utilizing G. R. C. Ag-NOR and Negative Ag banding revealed a complete deletion of heterochromatin of the Y chromosome in the index patient. Other male family mcmbers investigated were found to have a normal Y chromosome. Extcnsive measurements of the deleted Y. as well as normal Y of the father and brothers wcre performed and compared. demonstrating no apparent loss of euchromatin. Using recent literature an attempt is made to map the Y chromosome.
MONITORING CHROMOSOMAL ABNORMALITIES AND ANTENATAL DIAGNOSIS PAULA. L. LANCASTERNational Perinatal Sfatistics Unit, C/niversrty c?f S1.dnc.j. Diagnostic services for chromosomal abnormalities and for antenatal detection of fetal abnormalities are expanding rapidly in Australia. Policies and practices related to serum screening and amniocentesis differ considerably from one State to another. Although experiences from individual laboratories have been reported at meetings and in publications. a continuous source of current information about these services is lacking.
GENETIC FACTORS IN SUSCEPTIBILITY TO ALCOHOL N. G. MARTIN Deparrrnent of P01~ularionBiolo'q,. Rcscwrch School r!f Biolo~yculSciences. 4ustralian h'ational l'nrvcrsrry Some people seem to become intoxicated quickly with very little alcohol, others are more resistant. Is there a genetic component in these differences in susceptibility to alcohol'? Body sway is one of the measures of psychomotor sensitivity to alcohol used in the twin study described in Dr Gibson's paper. It is found that body sway increascs under alcohol. far more in females than in males, after correction for weight and height. Within each sex there is great variation. Results of analyses will be presented to determine whether