Retrospective Analysis of Irregular Antibodies Causing Hemolytic Disease of the Fetus and Newborn in Jiangxi Province / 中国实验血液学杂志

OBJECTIVE@#To analyze the characteristics of antibody-specific distribution, laboratory detection results of hemolytic disease of the fetus and neonatal(HDFN) caused by irregular blood group antibodies other than ABO, and its correlation with the clinical situation.@*METHODS@#The non-ABO-HDFN cases in our hospital from October 2012 to December 2021 were selected as the research objects, and the cases diagnosed with ABO-HDFN in the same period were randomly selected as the control group, and the data of antibody specific distribution, total bilirubin, direct antibodies, maternal history, age of the children, the presence or absence of combined ABO-HDFN, and whether to exchange/transfuse blood were retrospectively analyzed. The characteristics of non-ABO-HDFN in Jiangxi province were analyzed.@*RESULTS@#The detection rate of non-ABO-HDFN in Jiangxi province increased. Among 187 non ABO-HDFN cases, the highest percentage of Rh-HDFN was detected (94.6%). Compared with the control group of ABO-HDFN, the non-ABO-HDFN had higher mean integral value of direct antibody, higher peak total bilirubin, and longer duration. Anti-M-HDFN may have severe disease but the direct antibody weak positive/negative, it was easy missed in clinical and delayed the treatment. There is no correlation between the specificity of irregular antibodies, the sex of the child, the mother's previous childbirth history, the presence or absence of combined ABO-HDFN and the need for blood exchange/transfusion(P>0.05).@*CONCLUSION@#The irregular antibodies of causing non ABO-HDFN in Jiangxi area are mainly Rh blood group system, followed by MNS blood group system. Understanding the characteristics of HDFN disease, serological features and the correlation with clinical indexes will help to detect and treat non ABO-HDFN in time and reduce the risk of complications.

Frequency of JK (a-b-) in Yichang: genetic pedigree analysis of Jk (a-b-) and Jka weak expression / 中国输血杂志

【Objective】 To explore the molecular hereditary and frequency of Jk(a-b-) in blood donors in Yichang. 【Methods】 A total of 49 999 samples from Yichang Red Cross Central Blood Station were screened for Jk(a-b-) by urea hemolysis test(2 mol /L). The phenotypes of JK (a-b -) probands and their families were confirmed by monoclonal anti-Jka and anti-Jkb, and the whole exon of SLC14A1 gene was sequenced. 【Results】 The frequency of Jk(a-b-) in Yichang blood donors was 0.004% (2/49 999), and the exon sequencing of SLC14A1 gene confirmed that both two probands were JK*02N.01 caused by c. 342-1G>A homozygous mutation.Besides, JK*01W.01 allele was observed in the pedigree analysis, and weak expression of Jka was found in 4 out of 11 family members. 【Conclusion】 The frequency of JK (a-b -) in Yichang blood donors is similar to those in Shanghai 0.004%(2/48 400), and both caused by JK * 02N.01 allele with high frequency in Southeast Asia. The epidemiological survey of JK * 01w.01 allele frequency should be further performed.

The Establishment and Application of Flow Cytometry on the Detection of Jka Antigen in Kidd Blood Group / 中国实验血液学杂志

OBJECTIVE@#To establish a based method flow cytometry to identify the antigen Jka in human red blood cells (RBCs) and verify its accuracy.@*METHODS@#A total of 96 blood samples were enrolled in the study randomly from the voluntary blood donors in Shenzhen Blood Center. The RBCs were incubated with IgG anti-Jka primary antibody, and then labeled with the secondary antibody anti-IgG-Alexa Fluor 647. The fluorescence histograms of each sample were obtained by flow cytometry. Serological agglutination test was used to compare the accuracy of flow cytometry in the detecting of antigen Jka, while PCR-SSP and gene sequencing genotyping were used to verify the accuracy of flow cytometry in the detecting of the antigen in human RBCs.@*RESULTS@#The results of flow cytometry for antigen Jka in human RBCs were consistent with those from serological tests. Samples that demonstrated higher serological agglutination intensity also showed higher fluorescence activity, which indicate more stronger of Jka antigen. The sensitivity of flow cytometry was higher than that of serological test; especially in distinguish Jka weak and negative samples. Flow cytometric results of all samples were consistent with the genotyping results, which confirmed the accuracy of flow cytometry.@*CONCLUSION@#The study established a new flow cytometry-based method successfully for the identification of Jka antigen of Kidd blood group in human RBCs. The Kidd blood group antigen Jka of different intensities can be accurately distinguished by the technique.

Determining of JK*A and JK*B Allele Frequency Distribution among Muslim Blood Donors from Southern Thailand

@#Background: The Kidd (JK) blood group system is of clinical importance in transfusion medicine. JK*A and JK*B allele detections are useful in genetic anthropological studies. This study aimed to determine the frequencies of JK*A and JK*B alleles among Muslim blood donors from Southern Thailand and to compare how they differ from those of other populations that have been recently studied. Methods: A cross-sectional study was used. Totally, 427 samples of dissimilar Thai- Muslim healthy blood donors living in three southern border provinces were selected via simple random sampling (aged 17–65 years old) and donors found to be positive for infectious markers were excluded. All samples were analysed for JK*A and JK*B alleles using PCR-SSP. The Pearson’s chi-squared and Fisher exact tests were used to compare the JK frequencies among southern Thai- Muslim with those among other populations previously reported. Results: A total of 427 donors—315 males and 112 females, with a median age of 29 years (interquartile range: 18 years)—were analysed. A JK*A/JK*B genotype was the most common, and the JK*A and JK*B allele frequencies among the southern Thai-Muslims were 55.2% and 44.8%, respectively. Their frequencies significantly differed from those of the central Thai, Korean, Japanese, Brazilian–Japanese, Chinese, Filipino, Africans and American Natives populations (P < 0.05). Predicted JK phenotypes were compared with different groups of Malaysians. The Jk(a+b+) phenotype frequency among southern Thai-Muslims was significantly higher than that of Malaysian Malays and Indians (P < 0.05). Conclusions: The JK*A and JK*B allele frequencies in a southern Thai-Muslim population were determined, which can be applied not only to solve problems in transfusion medicine but also to provide tools for genetic anthropology and population studies.

Clinical analysis of seven cases of rare hemolytic disease of the newborn / 中华儿科杂志

Objective@#To summarize the clinical features of 7 rare cases of hemolytic disease of newborn (HDN), and to improve the understanding of rare HDN.@*Methods@#Data of clinical information, laboratory findings, treatments and outcomes were collected and analyzed for four cases with HDN due to anti-M, two cases due to anti-Kidd, and one case due to anti-Duffy. All of them were admitted to the Department of Neonatology, Beijing Children's Hospital Affiliated to Capital Medial University from July 2007 to June 2017.@*Results@#Among the four MN hemolytic babies, two were males and two were females. Jaundice was found in three cases. Two cases had hyperbilirubinemia, one of them had severe hyperbilirubinemia. All the four cases developed anemia, including severe anemia in three cases. Two cases of Kidd hemolytic disease and 1 case of Duffy hemolytic disease had jaundice and anemia, but did not reach the level of severe hyperbilirubinemia and severe anemia. MN hemolytic disease babies got negative results in direct antiglobulin test, whereas the Kidd and Duffy hemolytic disease babies had positive findings in direct antiglobulin test. None of the babies had blood transfusion, and they were discharged from the hospital.@*Conclusions@#Without maternal and fetal blood group incompatibility (ABO or Rh blood-group system), for early onset of jaundice, severe jaundice or anemia, antiglobulin test to mother and child earlier should be administered, and MN, Kidd, Duffy and other rare hemolytic disease of the newborn should be pay attention to.

Study on phenotypic screening and molecular genetics of rare blood type Jk(a-b-) in donors of Fujian province / 临床检验杂志

Objective To investigate the frequency of Jk(a-b-) phenotype of Kidd blood type system in blood donors of Fujian province and its genetic characteristics.Methods The Jk (a-b-) phenotype in the blood samples obtained from 180 626 donors were screened by using urea lysis assay and the suspected Jk(a-b-) pbenotype individuals were confirmed using conventional serological method.The genomic DNA covering the sequence from exon 1 to exon 11 of JK gene and respective flanking area(50-150 bp),as well as the promoter were amplified by polymerase chain reaction,and the products of PCR were directly sequenced.The genotypes of 7 SNPs of JK gene in the blood samples from 200 blood donors of Fujian province were detected by SNaPshot assay.Results Of 180 626 blood donors,15 cases with Jk(a-b-) phenotype were identified.The genomic analysis for the 15 cases revealed the four recessive JK-null alleles,i.e.,JK*B(IVS5-1G＞A),JK*B(896G＞A),JK*A(130G＞A,220A ＞G) and JK* B(130G ＞A,956C ＞ T) were observed with frequency of 66.67％,23.33％,6.67％ and 3.33％,respectively.SNaPshot results showed the frequency of JK * B (IVS5-1 G ＞ A) was 0.75 ％ and G130A was the common polymorphism.No A220G,C222T,C956T and G896A mutation was found in the 200 blood donors.Conclusion The frequency of Jk (a-b-) blood type in the donors of Fujian population was estimated about 0.008％.JK * B(IVS5-1G ＞ A) and JK * B(896G ＞ A) alleles may be the predominate circulating genes in Fujian population with Jk (a-b-) phenotype.Direct DNA sequencing revealed a novel allele leading to JK-null,SLC14A1 130A,220G.

Kidd Phenotypes in Multiple Ethnicities in Hospital Umum Sarawak, Malaysia

@#Introduction: Kidd blood group system is distributed differently within populations. In Malaysia, the prevalence of Kidd phenotypes have been reported but not in Hospital Umum Sarawak (HUS).We characterised Kidd phenotypes among regular blood donors in HUS. Methods: A cross-sectional study was done from 1st September 2015 to 10th September 2015. Blood samples were collected from 250 regular blood donors of different ethnicities in HUS. Samples were then investigated for Kidd blood group phenotypes by utilising Seraclon anti-Jka and anti-Jkb reagents employing the Diamed-ID gel card system. Results: Phenotype Jk(a+b+) was found in 110 out of 250 (44.0%) and phenotype Jk (a-b-) phenotype in seven out of 250 (2.8%) blood donors. Jk(a+b-) was detected in 60 out of 250 (24.0%) and Jk(a-b+) in 73 out of 250 (29.2%) donors. Kidd phenotype was detected in four ethnics; Chinese 50.8%, Malays 38.4%, Bidayuh 10.0% and Iban 0.8%. Jk(a-b-) phenotype was present only in the Malays; seven out of 250 (2.8%) but not found in other ethnicities. Conclusion: Jk(a+b+) is the most common Kidd phenotype found in regular blood donors in HUS in the four ethnicities studied. Only Malays exhibit the Jk(a-b-) phenotype which is a rare phenotype. The results of this study may serve as a preliminary database for Kidd blood group profile of regular blood donors in HUS.

Lack of association between Kidd blood group system and chronic kidney disease

Abstract Background: The Kidd blood group system has three antigens, Jka, Jkb and Jk3, found on red blood cells and on endothelial cells of the inner lining of blood vessels in the renal medulla. These are known as urea transporter B (UT-B). Researchers have found that individuals carrying the Jk(a − b−) or Jk-null (UT-B null) phenotypes have a lower urine-concentrating capability and risk of severe renal impairment. This study evaluated the distribution of the Kidd phenotypes in patients with chronic kidney disease and a possible association of Kidd antigens with the development of renal disease. Methods: Jka and Jkb antigens were phenotyped using the gel column agglutination test (ID-cards Bio-RAD) in 197 patients with chronic kidney disease and 444 blood donors, as the control group. The phenotype and antigen frequencies between patients and controls were evaluated using the Chi-square method with Yates correction and logistic regression after adjustments for gender and age. Results: No differences were observed between the Kidd phenotypes frequency distribution between patients with chronic kidney disease and blood donors [Jk(a − b+) = 22.3% and 27.2%; Jk(a + b−) = 30.5% and 24.3%; Jk(a + b+) = 47.25% and 48.4%, respectively]. Conclusion: The distribution of Kidd phenotypes found in the studied population is expected for Caucasians; Jka and Jkb antigens and phenotypes were not found to be related to susceptibility for chronic kidney disease.

A Case of Hemolytic Transfusion Reaction Attributable to Anti-Jk(b) Abolished in the Enzyme Phase Reaction / 대한수혈학회지

We report a case of an intravascular hemolytic reaction attributable to anti-Jk(b) antibodies that were not detected using an enzyme phase antibody identification test. A 61-year-old male who had received two units of red blood cells was admitted to the emergency room because his urine was dark. LISS/Coombs gel column agglutination tests suggested the presence of anti-Jk(b) and anti-E antibodies. However, his serum was negative for the Jk(b) antigen when an enzyme phase test was performed. A positive reaction was evident, however, when EDTA-treated plasma was tested; this excluded any possible complement-mediated reaction. The patient was diagnosed with an intravascular hemolytic transfusion reaction, caused by anti-Jk(b), and was later discharged without specific complications after receiving antigen-negative blood transfusions.

Usefulness of Additional LISS/Coombs Card Test with Enzyme-Treated Red Cells in Detecting Anti-Kidd Antibodies Not Detectable by NaCl/Enzyme Card Test Alone / 대한수혈학회지

BACKGROUND: Detection of anti-Kidd antibody is important because of its clinical significance. If detection is difficult due to weak serological reactivity or dosage effect, use of an enzyme method could be helpful. However, despite use of an enzyme method, we still observed weak reactivity of anti-Kidd antibody. METHODS: All identified anti-Kidd antibody cases from Jan 2012 to Aug 2015 in Asan Medical Center were reviewed. Antibody identification test was performed using the column agglutination technique using Bio-Rad ID-DiaPanel with LISS/Coombs card, Bio-Rad ID-DiaPanel-P with NaCl/Enzyme card, and ID-DiaPanel-P with LISS/Coombs card. The test results were compared. RESULTS: Sixty cases of anti-JK(a) or anti-Jk(b) were detected and tested by enzyme method. Among them, 34 (56.6%) cases showed strengthened reactivity using the ID-DiaPanel-P with NaCl/Enzyme card method. However, 26 (43.4%) cases showed weakened reactivity. Of these, 13 cases that could be tested by an additional method using ID-DiaPanel-P with LISS/Coombs card containing anti-IgG and anti-C3d showed successfully strengthened reactivity. CONCLUSION: The reactivity of anti-Kidd antibodies that was not strengthened using ID-DiaPanel-P with NaCl/Enzyme card method could be successfully strengthened by use of the ID-DiaPanel-P with LISS/Coombs card.

Kidd blood group phenotypes among pregnant women in Sokoto, North Western Nigeria

OBJECTIVE@#To investigate the prevalence of Kidd antigens among pregnant women in Sokoto, North Western Nigeria.@*METHODS@#One hundred and sixty two pregnant women aged 18-45 years [mean age (27.19±4.72) years] attending antenatal clinic in Usmanu Danfodiyo University Teaching Hospital, Sokoto, were screened for the presence of Kidd blood group antigens using the conventional tube method and anti-Jka and Jkb reagents (Lorne Laboratories, UK).@*RESULTS@#Out of the 162 pregnant women tested, 82 (50.6%) were Hausa, 26 (16%) were Igbo, 23 (14.2%) were Fulani and 20 (12.3%) were Yoruba while the minority ethnic groups were 11 (6.8%). The distribution of Kidd antigen was compared based on the ethnic groups of subjects. Jka antigen was the highest among the Yoruba ethnic group (10.0%) followed by the Hausa ethnic group (7.31%). The prevalence of Jkb was highest among Hausa subjects (10.97%) followed by the Yoruba ethnic group (10.0%). Subjects were categorized based on parity. Majority of the subjects were multigravidae, 122 (75.3%) compared to primigravidae 40 (24.7%). Subjects were stratified based on trimester. A significant number of women were in the second trimester, 111 (68.5%) compared to the third trimester 38 (23.5%) and the first 13 (8.0%). The distribution of Kidd antigens among subjects studied indicated a prevalence of Jka, Jkb and Jk(a+b+) with 8 (4.9%), 13 (8.0%) and 0 (0.0%), respectively. A significant number of subject tested were negative for Kidd antigens. Of the 162 pregnant women tested, 154 (95.1%), 149 (75.3%) and 141 (87.04%) tested were negative for Jka, Jkb, and Jk(a-b-), respectively.@*CONCLUSIONS@#This study indicates that blood group antigens can be distributed differently within different nationalities. Kidd phenotypes observed among pregnant women in this study was similar to previous reports among blacks but at variance with report among Caucasians and Asians. We recommend that detailed routine phenotyping for all clinically significant red cell antigen including Kidd antigen being carried out routinely among all pregnant women in Nigeria. There is also the need to routinely screen all pregnant women for alloantibodies to facilitate the selection of antigen negative units for those with clinically significant alloantibodies who require a red cell transfusion. This can potentially optimise the obstetric management of haemolytic disease of foetus and newborn and prevent haemolytic transfusion reaction among pregnant women.

Kidd blood group phenotypes among pregnant women in Sokoto, North Western Nigeria

Objective: To investigate the prevalence of Kidd antigens among pregnant women in Sokoto, North Western Nigeria. Methods: One hundred and sixty two pregnant women aged 18-45 years [mean age (27.19±4.72) years] attending antenatal clinic in Usmanu Danfodiyo University Teaching Hospital, Sokoto, were screened for the presence of Kidd blood group antigens using the conventional tube method and anti-Jka and Jkb reagents (Lorne Laboratories, UK). Results: Out of the 162 pregnant women tested, 82 (50.6%) were Hausa, 26 (16%) were Igbo, 23 (14.2%) were Fulani and 20 (12.3%) were Yoruba while the minority ethnic groups were 11 (6.8%). The distribution of Kidd antigen was compared based on the ethnic groups of subjects. Jka antigen was the highest among the Yoruba ethnic group (10.0%) followed by the Hausa ethnic group (7.31%). The prevalence of Jkb was highest among Hausa subjects (10.97%) followed by the Yoruba ethnic group (10.0%). Subjects were categorized based on parity. Majority of the subjects were multigravidae, 122 (75.3%) compared to primigravidae 40 (24.7%). Subjects were stratified based on trimester. A significant number of women were in the second trimester, 111 (68.5%) compared to the third trimester 38 (23.5%) and the first 13 (8.0%). The distribution of Kidd antigens among subjects studied indicated a prevalence of Jka, Jkb and Jk(a+b+) with 8 (4.9%), 13 (8.0%) and 0 (0.0%), respectively. A significant number of subject tested were negative for Kidd antigens. Of the 162 pregnant women tested, 154 (95.1%), 149 (75.3%) and 141 (87.04%) tested were negative for Jka, Jkb, and Jk(a-b-), respectively. Conclusions: This study indicates that blood group antigens can be distributed differently within different nationalities. Kidd phenotypes observed among pregnant women in this study was similar to previous reports among blacks but at variance with report among Caucasians and Asians. We recommend that detailed routine phenotyping for all clinically significant red cell antigen including Kidd antigen being carried out routinely among all pregnant women in Nigeria. There is also the need to routinely screen all pregnant women for alloantibodies to facilitate the selection of antigen negative units for those with clinically significant alloantibodies who require a red cell transfusion. This can potentially optimise the obstetric management of haemolytic disease of foetus and newborn and prevent haemolytic transfusion reaction among pregnant women.

Blood group phenotype frequencies in blood donors from a tertiary care hospital in north India

BACKGROUND: Knowledge about the frequency of red blood cell-antigen phenotypes in a population can be helpful in the creation of a donor data bank for the preparation of indigenous cell panels and for providing antigen-negative compatible blood to patients with multiple alloantibodies. METHODS: ABO and RhD blood grouping was performed on 9,280 continuous voluntary and replacement donors. For other rare blood groups, 508 ACD blood samples were obtained from the donors at the Blood Bank of the Department of Transfusion Medicine, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Blood group antigens were determined by tube method using anti-sera (Bio-Rad, USA), and the phenotype frequencies were expressed as percentages. RESULTS: Group B (37.39%) was the most common, followed by group O (31.85%). R1R1 and rr were the most common phenotypes amongst Rh positive and Rh negative groups, respectively. A rare phenotype R2Rz was found in one donor. For Kidd and Duffy blood group systems, Jk (a+b+) and Fy (a+b+) were the most common phenotypes (46.06% and 48.03%, respectively). The most common phenotypes for MNSs, Lu, and Kell blood groups were M+N+, S-s+, Lu (a-b+), and K-k+, respectively. A very rare case of Fy (a-b-) and Jk (a-b-) was found in a single donor. CONCLUSION: This study is the first small step to create a rare donor data bank and to prepare indigenous cell panels to provide compatible blood to all multi-transfused alloimmunized patients.

Blood group phenotype frequencies in blood donors from a tertiary care hospital in north India

BACKGROUND: Knowledge about the frequency of red blood cell-antigen phenotypes in a population can be helpful in the creation of a donor data bank for the preparation of indigenous cell panels and for providing antigen-negative compatible blood to patients with multiple alloantibodies. METHODS: ABO and RhD blood grouping was performed on 9,280 continuous voluntary and replacement donors. For other rare blood groups, 508 ACD blood samples were obtained from the donors at the Blood Bank of the Department of Transfusion Medicine, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Blood group antigens were determined by tube method using anti-sera (Bio-Rad, USA), and the phenotype frequencies were expressed as percentages. RESULTS: Group B (37.39%) was the most common, followed by group O (31.85%). R1R1 and rr were the most common phenotypes amongst Rh positive and Rh negative groups, respectively. A rare phenotype R2Rz was found in one donor. For Kidd and Duffy blood group systems, Jk (a+b+) and Fy (a+b+) were the most common phenotypes (46.06% and 48.03%, respectively). The most common phenotypes for MNSs, Lu, and Kell blood groups were M+N+, S-s+, Lu (a-b+), and K-k+, respectively. A very rare case of Fy (a-b-) and Jk (a-b-) was found in a single donor. CONCLUSION: This study is the first small step to create a rare donor data bank and to prepare indigenous cell panels to provide compatible blood to all multi-transfused alloimmunized patients.

The genotyping of Kell, Duffy, and Kidd System in Korean / 대한수혈학회지

BACKGROUND: Among human blood group antigens, the genes for Kell, Duffy, and Kidd antigens have been recently identified, and those can play an important role in unexpected acute and delayed hemolytic transfusion reactions or hemolytic disease of newborns. The determination of blood group polymorphism at the genomic level facilitates the resolution of clinical problems that cannot be addressed by hemagglutination. They are useful to determine antigen types for which currently available antibodies are weakly reactive, type patients who have been recently transfused, identify fetuses at risk for hemolytic disease of the newborn and to increase the reliability of repositories of antigen negative RBCs for transfusion. METHODS: Two hundred peripheral blood samples were collected from normal population. Primer sets were used with slight modification from Reid M.E, et al. Bsm I, Ban I, and Mnl I were used from digestion of 5 uL PCR products. 10 uL of each digested-PCR products were electrophoresed on agarose or polyacrylamide gel with ethidium bromide staining. Kell, Duffy, and Kidd phenotypes (serologic types) were compared with respective genotypes by PCR-RFLP. RESULTS: The concordance rate was 100%: between genotype and phenotype 0 case(0%) K, 187 cases(100%) k; 22 cases(11.4%) Fy(a+b+), 171 cases(88.1%) Fy(a+b-), 1 case(0.5%) Fy(a-b+), 0 case(0%) Fy(a-b-); 95 cases(50.8%) Jk(a+b+), 39 cases(20.9%) Jk(a+b-), 53 cases(28.3%) Jk(a-b+), 0 case(0%) Jk(a-b-). In this study, Fyb frequency was 11.9% and it was equal to that of Japan and China. We analyzed each digested PCR product from 200 patients; Kell(187 cases), Duffy(194 cases), and Kidd(187 cases). CONCLUSIONS: The PCR-RFLP method can be effectively used for the Kell, Duffy, and Kidd typing and is particularly useful in cases where serological typing method is difficult as in autoimmune hemolytic anemia or recently transfused red blood cells in their circulation. Also, it is useful in cases of hemolytic disease in newborns and hemolytic transfusion reaction.

A study of the distribution of Jk(a-b-) phenotype in the blood donors of Panyu district,China / 中国输血杂志

Objective To study the distribution of Jk(a-b-) phenotype in the blood donors of Panyu district. Methods Negative samples were screened by U type 96 well microplate technology, and then confirmed by routine serologic testing. The Jk(a-b-) phenotypes were genotyped and the genomic DNA coding region covering 4-11 exons and their flanking region were expanded and sequenced. Results Ten Jk(a-b-) phenotypes were found out of 50034 donors from June 2004 to August 2006, with the frequency of 0.02%. Three kinds of mutation sequences were detected: 1) AG to AA in the 3' splice site of intron 5; A to G at 588 site, and AA196CCA to CCG in exon 7. The genotype presumed to be JKb(△6)/ JKb(△6).2) C to A at 222 site of exon 5, and AA74AAC to AAA ; C to G at 536 site of exon 7, and AA179CCT to CGT; A to G at 588 site of exon 7,and AA196CCA to CCG. The genotype is presumed to be JKb(222A)/JKb(536G).3) AG to AA in the 3' splice site of intron 5;A to G at 499 site of exon 7,and AA167ATG to GTG; A to G at 588 side of exon 7,and AA196CCA to CCG. The genotype is presumed to be JKb(△6)/JKb(499G). Conclusions Two novel mutations, A to G at 499 side of exon 7 and C to G at 536 site of exon 7, are first discovered.

Research on molecular genetic basis for Jk(a-b-) phenotype / 中国输血杂志

Objective To investigate the molecular basis for Jk(a b ) phenotype.Methods Routine serologic testing for phenotype.Genomic DNA covering 4～11 exons and partial introns of JK gene was amplified by ploymerase chain reaction.The PCR products were excised and purified from agarose gels with a kit,then fragments were directly sequenced.Results G mutated to A in the 3'acceptor splice site of intron 5;A to G at 78 site from the 3'end of intron 3;C to T at 84 site from the 5'end of intron 8; A to G at 588 site of exons ( exon 7); G to A at 838 site of exons (exon 9).The splice site mutation (G→A) of intron 5 may cause the skipping of exon 6.Conclusion G to A mutation in the 3'acceptor splice site of intron 5 maybe one of the molecular basis for Jk(a-b-) phenotype